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

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.

impala) 62 lervia (aoudad) 62 Aotus trivirgatus (New World monkey) 113 Bos taurus (bovine) 62, 113 Canis familiaris (dog) 113 Capra hircus (goat) 62 Capreolus capreolus (roe) 113 Connochaetes taurinus (gnu) 62 Equus caballus (horse) 113 Hippotragus niger (sable antelope) 62 Kobus ellipsiprymnus, K. kob, K. leche, K. megaceros (antelope) 128 Macaca fascicularis (Old World monkey) 113

We present an unusual case of monosomy 17p13-pter and monosomy Xp22.2-pter due to a dicentric translocation chromosome X/17 in a female newborn with severe anomalies. The karyotype was identified as 45,X,dic(X;17)(p22.2;p13) by high resolution GTG banding in lymphocytes. R banding showed the translocational X-chromosome to be late replicating, and there was no spreading of X-inactivation onto the autosomal segment. Furthermore, it could be demonstrated by C banding that the X-centromere in the translocation chromosome was inactive.The results of short tandem repeat (STR) typing confirmed the partial monosomy X and 17 as well as the paternal origin of the two chromosomes X and 17 which were involved in the translocation chromosome formation. The cell stage of the structural rearrangement was consistent with paternal meiosis as well as with postzygotic mitosis. The monosomy was confirmed in lymphocytes and fibroblasts, and mosaicism was not detected.

Tetrasomy 9p is a rare chromosomal aberration that was described in 28 previous patients. Here we report on a newborn girl who was referred for genetic evaluation because of developmental delay, hypertonicity, microcephaly, minor anomalies, and neurometabolic findings. She had an isochromosome 9p (pter --> p10 --> pter) in 32% of blood cells. The extra chromosome was not found in amniocytes. Examination of fibroblasts from different skin biopsies also showed mosaicism in this tissue. In a first biopsy from the abdominal wall, the cells (n = 50) had a normal chromosomal complement. Further analysis of fibroblasts from the left forearm showed the isochromosome 9p in 5 out of 8 mitoses. Fluorescence in situ hybridization (FISH), using a whole chromosome 9 probe, confirmed that the extra marker was 9 in origin. Molecular studies showed that the isochromosome was of maternal origin. Meiotic nondisjunction was followed by centromeric misdivision and postzygotic loss of the marker.

Both double aneuploidy and trisomy 10 are rare chromosome findings. All five published cases of trisomy 10 in liveborns were found to be mosaic with an euploid cell line. In a liveborn female twin, double aneuploidy mosaicism 47,XX, + 10/45,X was detected prenatally by amniocentesis performed because of severe intrauterine growth retardation and malformations. Chromosome analysis from neonatal lymphocyte cultures revealed exclusively the 45,X cell line. Double aneuploidy mosaicism trisomy 10/monosomy X was confirmed from skin fibroblasts. The child died at the age of 7 weeks. This is the first reported case of double aneuploidy involving trisomy 10, and the first case of trisomy 10 without a normal cell line in a liveborn. Prenatal diagnosis of trisomy 10 in a liveborn has not been published so far. The case illustrates that in specific cases amniotic fluid cells may reflect the karyotype of the fetus better than blood.

Prenatal DiagnosisVolume 14, Issue 7 p. 651-652 Letter to the Editor Pitfall: Amniocentesis fails to detect mosaic trisomy 8 in a male newborn M. Schneider, M. Schneider Labor für Medizinische Genetik, Dr Tettenbon Neue Str. 40, 89073 Ulm, GermanySearch for more papers by this authorU. Klein-Vogler, U. Klein-Vogler Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this authorJ. Tomiuk, J. Tomiuk Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this authorM. Schliephacke, M. Schliephacke Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this authorM. Leipold, M. Leipold Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this authorH. Enders, H. Enders Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this author M. Schneider, M. Schneider Labor für Medizinische Genetik, Dr Tettenbon Neue Str. 40, 89073 Ulm, GermanySearch for more papers by this authorU. Klein-Vogler, U. Klein-Vogler Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this authorJ. Tomiuk, J. Tomiuk Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this authorM. Schliephacke, M. Schliephacke Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this authorM. Leipold, M. Leipold Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this authorH. Enders, H. Enders Abteilung Klinische Genetik, Institut für Anthropologie und Humangenetik der Universität Tübingen Wilhelmstr. 27, 72074 Tübingen, GermanySearch for more papers by this author First published: July 1994 https://doi.org/10.1002/pd.1970140728Citations: 20AboutPDF 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 Volume14, Issue7July 1994Pages 651-652 RelatedInformation

Die Ursache prämaturer Menopause ist bei einem Teil der Patientinnen eine Chromosomenaberration. Dies kann eine strukturelle Aberration eines X-Chromosoms sein oder es handelt sich um ein Zellmosaik mit Zellinien mit 45,X, 46,XX und auch 47,XXX. Eine strukturelle Aberration kann eine Deletion am langen Arm eines X-Chromosoms oder eine X-Autosomentranslokation sein.

Das fragile X-Syndrom (Martin-Bell-Syndrom) ist eine der häufigsten Ursachen geistiger Retardierung im männlichen Geschlecht. Unter Beachtung der Familienanamnese und des klinischen Bildes kann die Verdachtsdiagnose oft zwischen dem 2. und 4. Lebensjahr gestellt werden. Da der Genlokus auf dem X-Chromosom bekannt ist und durch die fragile Stelle identifiziert werden kann, ist eine zytogenetische Sicherung der Diagnose möglich. Es ist klar, daß der entsprechend markierte Lokus für die zerebrale Entwicklung relevante Informationen enthält. Das entsprechende Gen ist aber bisher nicht identifiziert und ungeklärt ist auch das pathogenetische Korrelat der in der Kindheit zunehmend deutlicher werdenden Enzephalopathie.

Eine Erhöhung der Natriumkonzentrationen in den Nährlösungen bewirkt eine Verzögerung des Wachstumsbeginns und eine Verlangsamung des Wachstums. Die Verzögerung setzt bei der Mutante bei niedrigeren Natriumkonzentrationen ein als beim Wildstamm.