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Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses.

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.

journal_name

Taiwan J Obstet Gynecol

journal_title

Taiwanese journal of obstetrics & gynecology

authors

Chen CP,Su YN,Chern SR,Hwu YM,Lin SP,Hsu CH,Tsai FJ,Wang TY,Wu PC,Lee CC,Chen YT,Chen LF,Wang W

doi

10.1016/S1028-4559(10)60070-8

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

333-40

issue

3

eissn

1028-4559

issn

1875-6263

pii

S1028-4559(10)60070-8

journal_volume

49

pub_type

杂志文章

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