mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses

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ID: 234135
2010
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Abstract
Objective: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 7. Materials, Methods and Results: A 38-year-old primigravid woman underwent amniocentesis at 19 weeks of gestation because of her advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+7[26]/46, XY[16]. Repeated amniocentesis at 21 weeks of gestation revealed a karyotype of 47,XY,+7[20]/46,XY[17]. Simultaneous cordocentesis revealed a karyotype of 46,XY in 100/100 cultured lymphocytes. Polymorphic DNA marker analyses of uncultured amniocytes and cord blood revealed a diallelic pattern with seemingly equal biparental inheritance of chromosome 7. Repeated cordocentesis and chorionic villus sampling at 23 weeks of gestation revealed a karyotype of 47,XY,+7[2]/46,XY[66] in cord blood and a karyotype of 47,XY,+7 in 24/24 cultured chorionic villi cells. Level II ultrasonography was normal. At 40 weeks of gestation, a 2,708 g normal male baby was delivered. The peripheral blood had a karyotype of 46,XY in 100/100 lymphocytes. Molecular analyses of placenta, urine, buccal swab, and peripheral blood revealed a diallelic pattern and seemingly equal biparental inheritance of chromosome 7 in all tissues. At 3 months of age, he manifested hypopigmented skin and inguinal hernia, but showed normal growth and mental development. Fluorescence in situ hybridization analysis of inguinal hernia sac tissue revealed that 19/100 (19%) of nuclei had three chromosome 7 signals. Conclusion: Mosaic trisomy 7 at amniocentesis may be derived from a cell culture artifact from an undetected low level of trisomy 7 mosaicism in uncultured amniocytes, and can be associated with favorable fetal outcome if the blood has a normal karyotype or a very low level of mosaicism and if uniparental disomy for chromosome 7 is excluded.
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chen2010taiwanesemosaic Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Chih-Ping Chen;Yi-Ning Su;Schu-Rern Chern;Yuh-Ming Hwu;Shuan-Pei Lin;Chyong-Hsin Hsu;Fuu-Jen Tsai;Tao-Yeuan Wang;Pei-Chen Wu;Chen-Chi Lee;Yu-Ting Chen;Li-Feng Chen;Wayseen Wang
Journal spermova
Year 2010
DOI
10.1016/S1028-4559(10)60070-8
URL
http://www.sciencedirect.com/science/article/pii/S1028455910600708
Keywords
gynecology and obstetrics prenatal diagnosis mosaicism array comparative genomic hybridization

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