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Prenatal diagnosis of trisomy 6 mosaicism
Author(s) -
Destree A.,
Fourneau C.,
Dugauquier C.,
Rombout S.,
Sartenaer D.,
Gillerot Y.
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1149
Subject(s) - trisomy , hypertelorism , arthrogryposis , prenatal diagnosis , hypoplasia , umbilical cord , arthrogryposis multiplex congenita , medicine , fetus , aneuploidy , gastroschisis , fluorescence in situ hybridization , pathology , anatomy , pregnancy , biology , genetics , chromosome , gene
Abstract We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the left hand, syndactylies and overlapping toes, facial dysmorphism with hypertelorism and low‐set ears, ventricular septum defect (VSD), intestinal malrotation and scoliosis. Trisomy 6 mosaicism was detected in cultured amniocytes (13.3%), confirmed in umbilical cord fibroblasts (40%) and by fluorescence in situ hybridization on other fetal tissues. Trisomy 6 mosaicism is a very rare finding with only eight cases previously reported to our best knowledge. Copyright © 2005 John Wiley & Sons, Ltd.