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Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

1 Dec 2012

Abstract excerpt

OBJECTIVE: This study aims at presenting prenatal diagnosis of mosaic trisomy 2 and reviewing the literature. MATERIALS, METHODS, AND RESULTS: A 32-year-old woman underwent amniocentesis at 21 weeks of gestation because of abnormal maternal serum biochemistry. Amniocentesis revealed a karyotype of 47,XY,+2[1]/46,XY[21] in in situ cultures. The single colony with trisomy 2 had two metaphase cells, and both had the...

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PMID: 23276565
DOI: 10.1016/j.tjog.2012.09.016

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