Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21

A 34-year-old woman, primigravid underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[8]/46,XY[16]. Among 24 colonies of cultured amniocytes, eight colonies had a karyotype of 47,XY,+mar, while the rest 16 colonies had a karyotype of 46,XY. The small supernumerary marker chromosome (sSMC) was bisatellited (Fig.  1). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes by Roche ISCA Plus Cytogenetic Array (Roche NimbleGen, Madison, WI, USA) revealed no genomic imbalance.
Source: Taiwanese Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Research Letter Source Type: research