Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review

Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping ChenWayseen Wang

Abstract

To present prenatal diagnosis of mosaic trisomy 15 at amniocentesis. A 37-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+15[2]/46,XY[17]. She was referred for repeated amniocentesis at 19 weeks of gestation. Array comparative genomic hybridization (aCGH), interphase fluorescence in situ hybridization (FISH) and quantitative fluorescent polymerase chain reaction assays on uncultured amniocytes, conventional cytogenetic analysis and aCGH on cultured amniocytes, and FISH on uncultured urinary cells after birth were applied. Cordocentesis revealed a karyotype of 46,XY. At repeated amniocentesis, cultured amniocytes revealed a karyotypes of 46,XY [22 colonies], FISH on uncultured amniocytes revealed 21.2% (22/104 cells) mosaicism for trisomy 15, aCGH on uncultured amniocytes revealed a genomic gain (log2 ratio = 0.3) in chromosome 15, quantitative fluorescent polymerase chain reaction on uncultured amniocytes excluded uniparental disomy 15 (UPD 15), and aCGH on culture amniocytes revealed no genomic imbalance in chromosome 15. A healthy 3700 g male baby was delivered at 38 weeks of gestation with no phenotypi...Continue Reading

References

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Apr 4, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Oct 1, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
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Mar 5, 2015·American Journal of Medical Genetics. Part a·Jacob McPaddenSamantha A Schrier Vergano

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