Objective. - X inactivation pattern in X chromosome rearrangements usually favor the less unbalanced cells. It is correlated to a normal phenotype, small size or infertility. We studied the correlation between phenotype and X inactivation ratio in patients with X structural anomalies.Patients and methods. - During the 1999-2005 period, 12 X chromosome rearrangements, including three prenatal cases, were diagnosed in the Laboratoire de Cytogenetique of Strasbourg. In seven cases, X inactivation ratio could be assessed by late replication or methylation assay.Results. - In three of seven cases (del Xp, dup Xp, t(X;A)), X inactivation ratio and phenotype were consistent. The four other cases showed discrepancies between phenotype and X inactivation pattern: mental retardation and dysmorphism in a case of balanced X-autosome translocation, schizophrenia and autism in two cases of XX maleness and MLS syndrome (microphthalmia with linear skin defects) in a case of Xp(21.3-pter) deletion.Conclusion. - Discrepancies between X inactivation ratio and phenotype are not rare and can be due to gene disruption, position effect, complex microrearrangements, variable pattern of X inactivation in different tissues or fortuitous association. In this context, the prognostic value of X inactivation study in prenatal diagnosis will be discussed. (c) 2006 Elsevier Masson SAS. All rights reserved.

We report the case of a boy whose karyotype at birth showed additional material on one chromosome 15. He underwent treatment for unilateral nephroblastoma at 6 years old. At 23 years old, he presented with body asymmetry, facial dysmorphism, arachnodactyly, severe scoliosis, and mental retardation. Molecular cytogenetic analyses of peripheral lymphocytes demonstrated a complex mosaic with three clones. A major cell lineage (68%) showed a chromosome 15 with additional material fused to its telomere long arm that was constituted by an inverted duplicated 15q24.3-qter segment. Therefore, the resulting add(15)(q) harbored an intrachromosomal triplication with the middle segment being inverted in orientation. A minor cell lineage (7%) showed an abnormal chromosome 3 resulting from a telomeric fusion between its short arm and an inverted duplicated 15q24.3-qter segment. The third cell lineage (25%) showed a normal 46,XY constitution. Finally, this resulted in tetrasomy for the distal 15q24.3-qter region in 75% of the patient's lymphocytes. To our knowledge, distal 15q tetrasomy is rare and only eight cases have been reported in the literature, all due to a supernumerary analphoid marker consisting of an inverted duplication. We report here the first observation of distal 15q tetrasomy associated with a 46 chromosomes constitution. We compare the phenotype of our patient to previous cases of distal tetrasomy 15q and discuss the mechanisms underlying this chromosomal rearrangement.

Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi: Tetraploidy is characterized by four complete sets of chromosomes (4n= 92). Although it has been frequently reported in spontaneous abortions, tetraploidy is extremely rare in term pregnancy. Most of late surviving patients are diploid/tetraploid mosaics and present severe mental and physical impairment. Up to date, only five tetraploidies were ascertained in the prenatal stage in amniocytes and/or fetal blood lymphocytes. No one has been reported in chorionic villi probably because tetraploidy is generally considered in this tissue as a false positive result due to confined placental mosaicism (CPM) or placental culture artefacts. We report here on a case of tetraploidy detected in chorionic villi because of fetal cystic hygroma. We discuss the reliability of this diagnosis and propose guidelines in the follow-up of tetraploidies detected after chorionic villus sampling (CVS). Thus a misdiagnosis of this poor condition will be avoided at best and an appropriate genetic counseling will be given to the parents.

We report on two male siblings with partial trisomy 2p22-pter and partial monosomy 15q26-qter resulting from a maternally derived translocation t(2;15)(p22;q26). Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of pregnancy. This report demonstrates the importance of chromosomal analysis in the etiologic exploration of neural tube defects and supports the importance of 2p24 triplication in neural tube development.

Clinical GeneticsVolume 63, Issue 4 p. 328-331 Failure of prenatal diagnosis of diploid–triploid mosaicism after amniocentesis E Flori, E FloriSearch for more papers by this authorB Doray, B DoraySearch for more papers by this authorG Rudolf, G RudolfSearch for more papers by this authorR Favre, R FavreSearch for more papers by this authorF Girard-Lemaire, F Girard-LemaireSearch for more papers by this authorC Schluth, C SchluthSearch for more papers by this authorI Zix-Kieffer, I Zix-KiefferSearch for more papers by this authorJ Flori, J FloriSearch for more papers by this authorM Loriot, M LoriotSearch for more papers by this authorE Schmitt, E SchmittSearch for more papers by this authorY Rumpler, Y RumplerSearch for more papers by this author E Flori, E FloriSearch for more papers by this authorB Doray, B DoraySearch for more papers by this authorG Rudolf, G RudolfSearch for more papers by this authorR Favre, R FavreSearch for more papers by this authorF Girard-Lemaire, F Girard-LemaireSearch for more papers by this authorC Schluth, C SchluthSearch for more papers by this authorI Zix-Kieffer, I Zix-KiefferSearch for more papers by this authorJ Flori, J FloriSearch for more papers by this authorM Loriot, M LoriotSearch for more papers by this authorE Schmitt, E SchmittSearch for more papers by this authorY Rumpler, Y RumplerSearch for more papers by this author First published: 22 April 2003 https://doi.org/10.1034/j.1399-0004.2003.00062.xCitations: 6 : E. Flori Laboratoire de Cytogénétique Hôpital de Hautepierre Avenue Molière 67098 – Strasbourg Cedex France Tel.: +33 3 88 12 73 38 Fax: +33 3 88 12 73 37 E-mail: Elisabeth.Flori@chru-strasbourg.fr 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 Volume63, Issue4April 2003Pages 328-331 RelatedInformation

Clinical GeneticsVolume 61, Issue 6 p. 468-471 Esophageal and duodenal atresia in a girl with a 12q24.3-qter deletion B Doray, B DoraySearch for more papers by this authorF Becmeur, F BecmeurSearch for more papers by this authorF Girard-Lemaire, F Girard-LemaireSearch for more papers by this authorC Schluth, C SchluthSearch for more papers by this authorE Flori, E FloriSearch for more papers by this author B Doray, B DoraySearch for more papers by this authorF Becmeur, F BecmeurSearch for more papers by this authorF Girard-Lemaire, F Girard-LemaireSearch for more papers by this authorC Schluth, C SchluthSearch for more papers by this authorE Flori, E FloriSearch for more papers by this author First published: 11 July 2002 https://doi.org/10.1034/j.1399-0004.2002.610613.xCitations: 12Read 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 onEmailFacebookTwitterLinkedInRedditWechat References 1 Meinecke P, Meinecke R. Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q. J Med Genet 1987: 24 (3): 187. 10.1136/jmg.24.3.187 CASPubMedWeb of Science®Google Scholar 2 Watson MS, McAllister-Barton L, Mahoney MJ, Breg WR. Deletion (12)(q15q21.2). J Med Genet 1989: 26 (5): 343–344. 10.1136/jmg.26.5.343 CASPubMedWeb of Science®Google Scholar 3 Tonoki H, Saitoh S, Kobayashi K. Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome. Am J Med Genet 1998: 75 (4): 416–418.DOI: 10.1002/(SICI)1096-8628(19980203)75:4<416::AID-AJMG13>3.0.CO;2-R 10.1002/(SICI)1096-8628(19980203)75:4<416::AID-AJMG13>3.0.CO;2-R CASPubMedWeb of Science®Google Scholar 4 Brady AF, Elsawi MM, Jamieson CR et al. Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12. J Med Genet 1999: 36 (12): 939–941. CASPubMedWeb of Science®Google Scholar 5 Elbistan M, Aydin M, Bagci H, Kara N. A case of hypogonadism with a translocation t(4;12(q25;q24.2). Indian J Pediatr 1994: 61: 421–426. 10.1007/BF02751907 CASPubMedGoogle Scholar 6 Hamerton LJ, Ray M, Douglas GR. Chromosome banding techniques in clinical cytogenetics: report of four cases irresolvable by conventional methods. Chromosome Identification, Nobel Symp 1973: 23: 209–213. Google Scholar 7 Hustinx WJ, Gabreëls JM, Korten JJ, Scheres JM, Joosten EMG, Gijsbers THJ. A mentally retarded child with a translocation involving chromosome 12 and 19. J Med Genet 1975: 12: 207–210. 10.1136/jmg.12.2.207 PubMedWeb of Science®Google Scholar 8 Masuno M, Imaizumi K, Nishimura G et al. Schwachman syndrome associated with de novo reciprocal translocation t(6;12(q16.2;q21.2). J Med Genet 1996: 32: 894–895. 10.1136/jmg.32.11.894 PubMedWeb of Science®Google Scholar 9 Scribanu N, McCullars EB, Baumiller RC, Colon AR. The syndrome of ring chromosome 12. Am J Med Genet 1980: 5 (2): 165–170. 10.1002/ajmg.1320050210 CASPubMedWeb of Science®Google Scholar 10 Zuffardi O, Danesino C, Poloni L, Pavesi F, Bianchi C, Gargantini L. Ring chromosome 12 and latent centromeres. Cytogenet Cell Genet 1980: 28 (3): 151–157. 10.1159/000131525 PubMedWeb of Science®Google Scholar 11 Park JP, Graham JM Jr, Andrews PA, Wurster-Hill DH. Ring chromosome 12. Am J Med Genet 1988: 29 (2): 437–440. 10.1002/ajmg.1320290228 CASPubMedWeb of Science®Google Scholar 12 Sathya P, Tomkins DJ, Freeman V, Paes B, Nowaczyk M. De novo deletion 12q: report of a patient with 12q24.31q24.33 deletion. Am J Med Genet 1999: 84 (2): 116–119. 10.1002/(SICI)1096-8628(19990521)84:2<116::AID-AJMG6>3.0.CO;2-3 CASPubMedWeb of Science®Google Scholar 13 Pameijer CR, Hubbard AM, Coleman B, Flake AW. Combined pure esophageal atresia, duodenal atresia, biliary atresia, and pancreatic ductal atresia: prenatal diagnostic features and review of the literature. J Pediatr Surg 1999: 35 (5): 745–747. 10.1053/jpsu.2000.6049 PubMedWeb of Science®Google Scholar 14 Chitty LS, Goodman J, Seller MJ, Maxwell D. Esophageal and duodenal atresia in a fetus with Down's syndrome: prenatal sonographic features. Ultrasound Obstet Gynecol 1996: 7 (6): 450–452. 10.1046/j.1469-0705.1996.07060450.x CASPubMedWeb of Science®Google Scholar 15 Celli J, Van Beusekom E, Hennekam RC et al. Familial syndromic esophageal atresia maps to 2p23-p24. Am J Hum Genet 2000: 66 (12): 436–444. 10.1086/302779 CASPubMedWeb of Science®Google Scholar Citing Literature Volume61, Issue6June 2002Pages 468-471 ReferencesRelatedInformation

Prenatal DiagnosisVolume 23, Issue 12 p. 1021-1023 Letter to the Editor Mosaic trisomy 13 on chorionic villi in a fetus with body wall complex: fortuitous association or pathogenic hypothesis? Bérénice Doray, Corresponding Author Bérénice Doray Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceLaboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorBrigitte Viville, Brigitte Viville Fédération de Gynécologie-Obstétrique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorYasmina Touret, Yasmina Touret Fédération de Gynécologie-Obstétrique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorBernard Gasser, Bernard Gasser Service d'Anatomie Pathologique, Hôpital Civil, Strasbourg, FranceSearch for more papers by this authorBrigitte Samama, Brigitte Samama Institut d'Histologie, Faculté de Médecine, Strasbourg, FranceSearch for more papers by this authorNelly Boehm, Nelly Boehm Institut d'Histologie, Faculté de Médecine, Strasbourg, FranceSearch for more papers by this authorFrançoise Girard-Lemaire, Françoise Girard-Lemaire Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorCaroline Schluth, Caroline Schluth Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorElisabeth Flori, Elisabeth Flori Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this author Bérénice Doray, Corresponding Author Bérénice Doray Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceLaboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorBrigitte Viville, Brigitte Viville Fédération de Gynécologie-Obstétrique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorYasmina Touret, Yasmina Touret Fédération de Gynécologie-Obstétrique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorBernard Gasser, Bernard Gasser Service d'Anatomie Pathologique, Hôpital Civil, Strasbourg, FranceSearch for more papers by this authorBrigitte Samama, Brigitte Samama Institut d'Histologie, Faculté de Médecine, Strasbourg, FranceSearch for more papers by this authorNelly Boehm, Nelly Boehm Institut d'Histologie, Faculté de Médecine, Strasbourg, FranceSearch for more papers by this authorFrançoise Girard-Lemaire, Françoise Girard-Lemaire Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorCaroline Schluth, Caroline Schluth Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this authorElisabeth Flori, Elisabeth Flori Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, FranceSearch for more papers by this author First published: 02 December 2003 https://doi.org/10.1002/pd.730Citations: 2AboutPDF 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 Bamforth JS. 1992. Amniotic band sequence: Streeter's hypothesis reexamined. Am J Med Genet 44: 280–287. Crane JP, Cheung SW. 1988. An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue. Prenat Diagn 8: 119–129. Hartwig NG, Vermeij-Keers CHR, De Vries HE, Kagie M, Kragt H. 1989. Limb body wall malformation complex. Hum Pathol 20: 1071–1077. Herva R, Karkinen-Jääskeläinen M. 1984. Amniotic adhesion malformation syndrome: fetal and placental pathology. Teratology 29: 11–19. Higginbottom MC, Jones KL, Hall BD, Smith DW. 1979. The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr 95: 544–549. Johnson A, Wapner RJ, Davis GH, Jackson LG. 1990. Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. 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The 49,XXXXY syndrome is a rare sex chromosome anomaly with an approximate incidence of 1 in 85,000 male live births. The diagnosis is usually ascertained postnatally by the association of mental retardation, variable growth deficiency, Down syndrome-like facial dysmorphy, hypogenitalism and other malformations, especially involving the heart and skeleton. Prenatal diagnosis of the pentasomy 49,XXXXY is generally fortuitous and sonographic features have rarely been described in the literature. We report here on two cases of 49,XXXXY syndrome diagnosed prenatally because of sonographic abnormalities. In the first, amniocentesis was performed at 26 weeks' gestation for polyhydramnios, unilateral clubfoot and micropenis. In the second, a karyotype was carried out on chorionic villi at 13 weeks' gestation for cystic hygroma. These observations and the six previously reported cases demonstrate that cystic hygroma in first or second trimester of pregnancy may be associated with sex chromosome aneuploidy other than Turner syndrome. Moreover, they emphasize the importance of detailed sonographic examination in the second trimester, as small penis and abnormal posturing of the lower extremities are very suggestive of the 49,XXXXY syndrome.