Prenatal DiagnosisVolume 24, Issue 12 p. 1022-1024 Letter to the Editor Inherited cryptic chromosomal aberrations may be more easily detected in their balanced forms: a case report with hidden der(1)t(1;17)(q44;p13.2) Thomas Liehr, Corresponding Author Thomas Liehr Institute of Human Genetics and Anthropology, Jena, GermanyInstitute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorAnita Heller, Anita Heller Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorKarl-Heinz Eichhorn, Karl-Heinz Eichhorn Practice of Gynecology, Weimar, GermanySearch for more papers by this authorVolkmar Beensen, Volkmar Beensen Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorEberhart Schulze, Eberhart Schulze Institute of Pathology, Jena, GermanySearch for more papers by this authorHeike Starke, Heike Starke Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorUwe Claussen, Uwe Claussen Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorIsolde Schreyer, Isolde Schreyer Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this author Thomas Liehr, Corresponding Author Thomas Liehr Institute of Human Genetics and Anthropology, Jena, GermanyInstitute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorAnita Heller, Anita Heller Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorKarl-Heinz Eichhorn, Karl-Heinz Eichhorn Practice of Gynecology, Weimar, GermanySearch for more papers by this authorVolkmar Beensen, Volkmar Beensen Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorEberhart Schulze, Eberhart Schulze Institute of Pathology, Jena, GermanySearch for more papers by this authorHeike Starke, Heike Starke Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorUwe Claussen, Uwe Claussen Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this authorIsolde Schreyer, Isolde Schreyer Institute of Human Genetics and Anthropology, Jena, GermanySearch for more papers by this author First published: 21 December 2004 https://doi.org/10.1002/pd.971Citations: 6AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Boehm D, Herold S, Kuechler A, Liehr T, Laccone F. 2004. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat 23: 368–378. Cavani S, Perfumo C, Faravelli F, et al. 2003. Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations. Prenat Diagn 23: 819–823. Gentile M, Di Carlo A, Volpe P, et al. 2003. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications. Am J Med Genet 117A: 251–254. Harada N, Hatchwell E, Okamoto N, et al. 2004. Subtelomere specific microarray based comparative genomic hybridization: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet 41: 130–136. Jalal SM, Harwood AR, Sekhon GS, et al. 2003. Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients. Genet Med 5: 28–34. Liehr T, Heller A, Starke H, et al. 2002. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9: 335–339. Mantripragada KK, Buckley PG, de Stahl TD, Dumanski JP. 2004. Genomic microarrays in the spotlight. Trends Genet 20: 87–94. Villa N, Sala E, Colombo D, Dell'Orto M, Dalpra L. 2000. Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation. J Med Genet 37: 612–615. Citing Literature Volume24, Issue1215 December 2004Pages 1022-1024 ReferencesRelatedInformation

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Prenatal DiagnosisVolume 23, Issue 5 p. 427-430 Letter to the Editor Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter Vladimir Trifonov, Vladimir Trifonov Institute of Human Genetics and Anthropology, Kollegiengasse Jena, Germany Institute of Cytology and Genetics, Lavrentieva Street Novosibirsk, RussiaSearch for more papers by this authorJörg Seidel, Jörg Seidel Clinic for children medicine, Kochstr Jena, GermanySearch for more papers by this authorHeike Starke, Heike Starke Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorPrechtel Martina, Prechtel Martina Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorVolkmar Beensen, Volkmar Beensen Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorMonika Ziegler, Monika Ziegler Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorIsabell Hartmann, Isabell Hartmann Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorAnita Heller, Anita Heller Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorAngela Nietzel, Angela Nietzel Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorUwe Claussen, Uwe Claussen Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorThomas Liehr, Corresponding Author Thomas Liehr [email protected] Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanyInstitute of Human Genetics and Anthropology, Kollegiengasse 10, D-07743 Jena, Germany.Search for more papers by this author Vladimir Trifonov, Vladimir Trifonov Institute of Human Genetics and Anthropology, Kollegiengasse Jena, Germany Institute of Cytology and Genetics, Lavrentieva Street Novosibirsk, RussiaSearch for more papers by this authorJörg Seidel, Jörg Seidel Clinic for children medicine, Kochstr Jena, GermanySearch for more papers by this authorHeike Starke, Heike Starke Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorPrechtel Martina, Prechtel Martina Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorVolkmar Beensen, Volkmar Beensen Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorMonika Ziegler, Monika Ziegler Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorIsabell Hartmann, Isabell Hartmann Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorAnita Heller, Anita Heller Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorAngela Nietzel, Angela Nietzel Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorUwe Claussen, Uwe Claussen Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanySearch for more papers by this authorThomas Liehr, Corresponding Author Thomas Liehr [email protected] Institute of Human Genetics and Anthropology, Kollegiengasse Jena, GermanyInstitute of Human Genetics and Anthropology, Kollegiengasse 10, D-07743 Jena, Germany.Search for more papers by this author First published: 24 April 2003 https://doi.org/10.1002/pd.595Citations: 25AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Alitalo T, Tiihonen J, Hakola P, de la Chapelle A. 1988. Molecular characterization of a Y;15 translocation segregating in a family. Hum Genet 79: 29–35. Benzacken B, Monier-Gavalle F, Siffroi JP, Agbo P, Chalvon A, Wolf JP. 2001. Acrocentric chromosome polymorphisms: beware of cryptic translocations. Prenat Diagn 21: 96–98. Brown J, Saracoglu K, Uhrig S, Speicher MR, Eils R, Kearney L. 2001. Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL). Nat Med 7: 497–501. Giardino D, Finelli P, Caufin D, et al. 2002. Pure 6p22-pter trisomic patient: refined FISH characterization and genotype–phenotype correlation. Am J Med Genet 108: 36–40. Langer S, Fauth C, Rocchi M, Murken J, Speicher MR. 2001. AcroM fluorescent in situ hybridization analyses of marker chromosomes. Hum Genet 109: 152–158. Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC. 1988. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 80: 224–234. Liehr T, Heller A, Starke H, et al. 2002. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9: 335–339. Mrasek K, Heller A, Rubtsov N, Trifonov V, Starke H, Rocchi M, Claussen U, Liehr T. 2001. Reconstruction of the female Gorilla gorilla karyotype by Zoo-FISH using 25-color FISH and multicolor banding (MCB). Cytogenet Cell Genet 93: 242–248. Müller S, O'Brien PC, Ferguson-Smith MA, Wienberg J. 1997. A novel source of highly specific chromosome painting probes for human karyotype analysis derived from primate homologues. Hum Genet 101: 149–153. Nietzel A, Rocchi M, Starke H, et al. 2001. A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108: 199–204. Senger G, Chudoba I, Plesch A. 1998. Multicolor-FISH—the identification of chromosome aberrations by 24 colors. BIOforum 9: 499–503. Citing Literature Volume23, Issue5May 2003Pages 427-430 ReferencesRelatedInformation

We report on a rare additional numerical chromosomal aberration in a child with Down syndrome due to free trisomy 21. The karyotype showed 48,XY,+21,+mar after GTG banding, with the marker present in 80% of cells. The supernumerary marker chromosome (SMC) was as small as approximately one-third of 18p, and with the recently developed centromere-specific multi-color fluorescence in situ hybridization (cenM-FISH) technique, it was shown that the SMC was a derivative chromosome 4. The SMC was not specifically stained by arm-specific probes for chromosome 4; thus, it has been described as der(4)(:p11 --> q11:). Microsatellite analysis resulted in a partial maternal uniparental isodisomy (UPD) for chromosome 4p15-16 and a maternal origin for two chromosomes 21. Until now only two similar cases have been described in the literature, but without clarifying the origin of the SMC and without looking for an additional UPD. This is the only reported case of a UPD 4p in a liveborn child.

To the Editor: It is a well-known fact that heteromorphisms of the alphoid DNA can lead to size variations of the centromeric region. When applying fluorescence in situ hybridization (FISH) using fluorescence-labeled alphoid probes, the signals obtained can vary among ‘absent’, ‘small’, ‘medium’, ‘large’ and ‘very large’, as shown in two previous reports published in Clinical Genetics (1, 2) and in another report of Verma et al. (3). The first two classes of variations (‘absent’ and ‘small’) may lead to false-positive results in interphase cytogenetics, i.e. monosomy of the corresponding chromosome is suspected in tumor-cytogenetic (4) or pre-natal diagnostics (5, 6). Conversely, very large heteromorphic patterns are detected in GTG-banding analysis as abnormal patterning of metaphase chromosomes (7–11). We report on three new cases with conspicuous GTG-banding results of the centromere-near region, initially thought to be centromere-near duplications or pericentric inversions, which were found to be caused by ‘large’ alphoid DNA repeats. The alphoid region on the corresponding homologous chromosomes was ‘medium’ sized. The real character of the suspected chromosomal rearrangements was initially identified by chance (see below for case 1) or after testing other FISH probes previous to alphoid DNA (case 2). Case 1 was a newborn boy with clinical signs resembling CATCH22. However, FISH analysis did not show a microdeletion in 22q11.2. According to GTG analysis, a small centromere-near duplication in 15q11.2 was suspected (Fig. 1a). Therefore, a commercial probe for this region (LSI Prader-Willi/Angelman Region Probe SNRPN; Vysis/Abbot, Wiesbaden-Delkenheim, Germany) was applied. No duplication was detectable by the SNRPN probe. However, the centromeric probe for chromosome 15 (cep 15 – D15Z1), which is included into the commercial probe set as a control, gave a ‘medium’ signal on the normal chromosome 15 and a ‘large’ signal on the chromosome 15 suspected to have a duplication (Fig. 1a). Thus, the real character of the conspicuous GTG-banding result was solved unexpectedly by a probe used as an internal control. One similar case has been reported previously (12). Images were captured on a Zeiss Axioplan microscope (Zeiss Jena, Germany) with the IKAROS and ISIS digital fluorescence in situ hybridization (FISH) imaging system (MetaSystems, Altlussheim, Germany), using a XC77 CCD camera with on-chip integration (Sony-Deutschland, Köln, Germany). Case 2 was a 34-year-old man referred for cytogenetic analysis because of a subfertility problem. According to GTG banding, a pericentric inversion in one chromosome 4 was suggested (Fig. 1b). FISH, using partial chromosome painting probes specific for chromosomal arms 4p and 4q, respectively, did not provide any evidence for such an inversion (result not shown). Therefore, according to the experience with case 1, a probe specific for the alpha satellite DNA of chromosome 4 (cep 4; Vysis) was applied and revealed a ‘medium’ signal on the normal chromosome 4 and a ‘large’ signal on the chromosome 4 thought to have an inversion (Fig. 1b). A 10-year-old girl (case 3) was analyzed cytogenetically because of growth retardation and the suspicion of Turner syndrome. A normal female karyotype was determined, apart from the two chromosomes 13: one chromosome 13 had a lacking p-arm (13p-) and the second looked like a possible aberrant chromosome with duplication in 13q12.1. Owing to the similarity with the doubtful chromosome 15 in case 1, a centromeric probe (cep 13/21; Q-BIOgene, Heidelberg, Germany) was applied. The dubious chromosome 13 was found to have a ‘large’ satellite variant, while the two chromosomes 21 and the 13p- chromosome had ‘medium’ sized alpha satellite DNA regions. The results presented in this report show that small centromere-near GTG-banding abnormalities can be tested best and most successfully by alphoid DNA probes, before applying other, more sophisticated and expensive, molecular cytogenetic studies. CBG-banding is not as useful for such cases because it is difficult to distinguish some chromosomes, especially those of the D- and G-groups. This work was supported by grants from Wilhelm Sander-Stiftung (99.105.1) and the EU (ICA2-CT-2000-10012 and QLRT-1999-31590). The continuous support of Carl Zeiss GmbH (Jena, Germany) is gratefully acknowledged.

We report on the fourth known case with an interstitial deletion in 15q21. In the present case the breakpoints have been determined by GTG-banding, microdissection and the recently developed multicolor banding (MCB) technique as 15q21.1-q21.3. Common features in all four cases are mental retardation, growth retardation, a beak-like nose with hypoplastic alae nasi and a thin upper lip. Additional frequent features are small hands and feet, hypotonia, low hair implantation, low set ears, clinodactyly and obesity. The possibility that a critical region for a new microdeletion-syndrome is situated in 15q21 is discussed.

Prenatal DiagnosisVolume 22, Issue 6 p. 497-499 Letter to the Editor Two more possible pitfalls of rapid prenatal diagnostics using interphase nuclei Thomas Liehr, Corresponding Author Thomas Liehr Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deInstitut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, Germany.Search for more papers by this authorIsolde Schreyer, Isolde Schreyer Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAnnett Neumann, Annett Neumann Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorVolkmar Beensen, Volkmar Beensen Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorMonika Ziegler, Monika Ziegler Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorIsabell Hartmann, Isabell Hartmann Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorHeike Starke, Heike Starke Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAnita Heller, Anita Heller Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAngela Nietzel, Angela Nietzel Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorUwe Claussen, Uwe Claussen Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this author Thomas Liehr, Corresponding Author Thomas Liehr Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deInstitut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, Germany.Search for more papers by this authorIsolde Schreyer, Isolde Schreyer Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAnnett Neumann, Annett Neumann Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorVolkmar Beensen, Volkmar Beensen Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorMonika Ziegler, Monika Ziegler Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorIsabell Hartmann, Isabell Hartmann Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorHeike Starke, Heike Starke Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAnita Heller, Anita Heller Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAngela Nietzel, Angela Nietzel Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorUwe Claussen, Uwe Claussen Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this author First published: 06 June 2002 https://doi.org/10.1002/pd.299Citations: 15AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume22, Issue6June 2002Pages 497-499 RelatedInformation

Here we report an 8-year-old male patient who had mesomelic shortening of forearms and legs, brachytelephalangia and ichthyotic skin lesions. Chromosomal analysis showed an X;Y translocation involving the short arm of the X chromosome (Xp). Fluorescence in situ hybridization (FISH) and molecular studies localized the breakpoints on Xp22.3 in the immediate vicinity of the KAL gene demonstrating deletions of steroid sulfatase (STS), arylsulfatase E (ARSE), and short stature homeo box (SHOX) genes. It was suspected that the patient was suffering from chondrodysplasia punctata because of a loss of the arylsulfatase E (ARSE) gene. However, no stippled epiphyses were to be seen in the neonatal radiograph. Interestingly, this patient is the first case with a proven loss of the ARSE gene without chondrodysplasia punctata, assuming that chondrodysplasia punctata is not an obligatory sign of ARSE gene loss. Brachytelephalangia was the only result of ARSE gene deletion in this case.The patient's mother also had dwarfism and showed Madelung deformity of the forearms. She was detected as a carrier of the same aberrant X chromosome. The male patient did not show Madelung deformity, demonstrating that Lerri-Weill syndrome phenotype may be still incomplete in children with SHOX gene deletion. The wide clinical spectrum in the male and the Leri-Weill phenotype in his mother are the results of both a deletion involving several sulfatase genes in Xp22.3 and the SHOX gene located in the pseudoautosomal region. Nevertheless, there is no explanation for the absence of chondrodysplasia punctata despite the total loss of the ARSE gene.Further studies are necessary to investigate genotype/phenotype correlation in cases with translocations or microdeletions on Xp22.3, including the ARSE and the SHOX gene loci.

62 The species and chromosomal distribution of the centromeric -satellite I sequence from sheep in the tribe Caprini and other Bovidae Chaves R, Guedes-Pinto H, Heslop-Harrison JS, Schwarzacher T 67 TSPY variants in six loci on the human Y chromosome Dechend F, Williams G, Skawran B, Schubert S, Krawczak M, Tyler-Smith C, Schmidtke J 72 Local mechanisms in sex specific morphogenesis Drews U 81 Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome Dufke A, Seidel J, Schöning M, Döbler-Neumann M, Kelbova C, Liehr T, Beensen V, Backsch C, Klein-Vogler U, Enders H 85 A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p) Dufke A, Eggermann K, Balg S, Stengel-Rutkowski S, Enders H, Kaiser P

Clinical GeneticsVolume 60, Issue 1 p. 83-85 Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21 T Liehr, T Liehr Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorV Beensen, V Beensen Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorH Starke, H Starke Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorR Hauschild, R Hauschild Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorE Hempell, E Hempell Frauenarztpratis, Lasallestr. 8, Jena, GermanySearch for more papers by this authorV Fritsche, V Fritsche Pratis f. Pathologie, Theobald-Rennes Str. 30, Jena, GermanySearch for more papers by this authorC Hoppe, C Hoppe Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorG Großwendt, G Großwendt Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorM Prechtel, M Prechtel Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorM Ziegler, M Ziegler Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorU Claussen, U Claussen Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorF Von Eggeling, F Von Eggeling Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this author T Liehr, T Liehr Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorV Beensen, V Beensen Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorH Starke, H Starke Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorR Hauschild, R Hauschild Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorE Hempell, E Hempell Frauenarztpratis, Lasallestr. 8, Jena, GermanySearch for more papers by this authorV Fritsche, V Fritsche Pratis f. Pathologie, Theobald-Rennes Str. 30, Jena, GermanySearch for more papers by this authorC Hoppe, C Hoppe Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorG Großwendt, G Großwendt Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorM Prechtel, M Prechtel Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorM Ziegler, M Ziegler Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorU Claussen, U Claussen Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this authorF Von Eggeling, F Von Eggeling Institut für Humangenetik und Anthroplogie, D-07740 Jena, GermanySearch for more papers by this author First published: 20 December 2001 https://doi.org/10.1034/j.1399-0004.2001.600114.xCitations: 3 :Dr Thomas LiehrInstitut für Humangenetik und AnthroplogieD-07740 Jena, GermanyTel: +49 3641 935533Fax: +49 3641 935502E-mail: i8lith@mti-n.mti.uni-jena.de Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume60, Issue1July 2001Pages 83-85 RelatedInformation

Prenatal DiagnosisVolume 21, Issue 5 p. 419-421 Letter to the Editor Pitfalls of rapid prenatal diagnosis using the interphase nucleus Thomas Liehr, Corresponding Author Thomas Liehr Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanyInstitut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 ena, Germany.Search for more papers by this authorVolkmar Beensen, Volkmar Beensen Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorRüdiger Hauschild, Rüdiger Hauschild Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorMonika Ziegler, Monika Ziegler Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorIsabell Hartmann, Isabell Hartmann Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorHeike Starke, Heike Starke Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorAnita Heller, Anita Heller Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorChristine Kähler, Christine Kähler Klinik für Frauenheilkunde, Bachstrasse 18, D-07740 Jena, GermanySearch for more papers by this authorMatthias Schmidt, Matthias Schmidt Zentralklinikum gGmbH Südthüringen, Albert-Schweitzer-Strasse 2, D-98527 Suhl, GermanySearch for more papers by this authorWolfgang Reiber, Wolfgang Reiber Frauenarztpraxis, Heinrich-Heine-Strasse 1, D-07749 Jena, GermanySearch for more papers by this authorMartin Hesse, Martin Hesse Südharz-Krankenhaus Nordhausen gGmbH, Dr-R.-Koch-Strasse 39, D-99734 Nordhausen, GermanySearch for more papers by this authorUwe Claussen, Uwe Claussen Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this author Thomas Liehr, Corresponding Author Thomas Liehr Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanyInstitut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 ena, Germany.Search for more papers by this authorVolkmar Beensen, Volkmar Beensen Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorRüdiger Hauschild, Rüdiger Hauschild Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorMonika Ziegler, Monika Ziegler Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorIsabell Hartmann, Isabell Hartmann Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorHeike Starke, Heike Starke Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorAnita Heller, Anita Heller Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this authorChristine Kähler, Christine Kähler Klinik für Frauenheilkunde, Bachstrasse 18, D-07740 Jena, GermanySearch for more papers by this authorMatthias Schmidt, Matthias Schmidt Zentralklinikum gGmbH Südthüringen, Albert-Schweitzer-Strasse 2, D-98527 Suhl, GermanySearch for more papers by this authorWolfgang Reiber, Wolfgang Reiber Frauenarztpraxis, Heinrich-Heine-Strasse 1, D-07749 Jena, GermanySearch for more papers by this authorMartin Hesse, Martin Hesse Südharz-Krankenhaus Nordhausen gGmbH, Dr-R.-Koch-Strasse 39, D-99734 Nordhausen, GermanySearch for more papers by this authorUwe Claussen, Uwe Claussen Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, GermanySearch for more papers by this author First published: 11 May 2001 https://doi.org/10.1002/pd.44Citations: 12AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Citing Literature Volume21, Issue5May 2001Pages 419-421 RelatedInformation

An unusual case of pulmonary atresia with an aberrant karyotype of 46,XX,t(6;8)(p21.2;q11.2) is reported. Fetal ultrasonic examination at the 20th week of gestation revealed a hypoplastic right ventricle and an intact interventricular septum. Authors summarize their postnatal findings in fetal heart and the large adjacent vessels with special reference to the pathogenesis of this rare congenital heart defect. The observation delineates right-ventricular outflow tract obstruction associated with an abnormal pulmonary blood supply. The anatomy of the systemic pulmonary collaterals was studied and correlated with multifocal disorders in the system of the pharyngeal arch arteries in the early embryonic development.

Partial trisomy 9q represents a rare and heterogeneous group of chromosomal aberrations characterised by various clinical features including pyloric stenosis. Here, we describe the case of a 1 year old female patient with different dysmorphic features including pyloric stenosis and prenatally detected partial trisomy 9q. This partial trisomy 9q has been analysed in detail to determine the size of the duplication and to characterise the chromosomal breakpoints. According to the data gained by different molecular cytogenetic techniques, such as fluorescence in situ hybridisation (FISH) with whole and partial chromosome painting probes, yeast artificial chromosome (YAC) probes, and comparative genomic hybridisation (CGH), the derivative chromosome 9 can be described as dup(9)(pter-->q22. 1::q31.1-->q22.1::q31.1--> q22.1::q31.1-->qter). Four breakpoint spanning YACs have been identified (y806f02, y906g6, y945f5, and y747b3) for the proximal breakpoint. According to this new case and previously published data, the recently postulated putative critical region for pyloric stenosis can be narrowed down to the subbands 9q22.1-q31.1 and is the result of either partial trisomy of gene(s) located in this region or a gene disrupted in 9q31.

This report presents changes of IGFs and IGFBPs in a female infant with partial trisomy 9q in the 12th week of life. Studying deficient growth in this hypoplastic infant (birth weight 1405 g, birth length 36 cm) with dysmorphic features, the following changes in IGFs and IGFBPs were detected (microg/l): IGF-I: 26.5 vs 48.1 in healthy infants; IGF-II: 420 vs 728; IGFBP-2: 931 vs 524; IGFBP-3: 800 vs 1070. This demonstrates that IGFs and IGFBPs may reflect individual insufficient growth even at this early age.

Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS critical region. In this paper we evaluate three WHS patients showing a microdeletion of 4p and remarkable development with respect to the clinical spectrum of WHS.

The possibility of distinguishing in routine diagnostics translocation trisomy dup(21q) from disomy 21 as well as from free trisomy 21 using interphase fluorescence in situ hybridization (FISH) with a single copy probe (LSI 21) localized on chromosome 21q22.13-q22.2 is described. In free trisomy 21 and translocation trisomy dup(21q) 94%-98% of the nuclei exhibit 3 specific signals, while in disomy 21 only up to 6% of them have 3 false positive signals. Furthermore, reliable differentiation between free and translocation trisomy dup(21q) can be achieved by evaluating the percentage of nuclei with one single and two co-localized chromosome 21q22.13-q22.2 specific signals in 50-100 interphase nuclei. While in translocation trisomy 75+/-4.3% are co-localized due to a chromosomal rearrangement, in free trisomy 21 only 40+/-2.83% of the nuclei have two co-localized signals by chance. No differences in interphase signal distribution could be detected in two cases with a dicentric chromosome dup(21q) compared to one case with a monocentric one, a comparison not previously carried out. In addition, the single copy probe LSI 21 was compared with the alphoid probe D13Z1/D21Z1 which was found to be unsuitable for such assays due to polymorphisms in the á satellite regions of chromosome 21.