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Trisomy 12 mosaicism detected by mid–trimester amniocentesis
Author(s) -
Petrella Rena,
Hirschhorn Kurt
Publication year - 1990
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.1970101204
Subject(s) - amniocentesis , trisomy , aneuploidy , obstetrics , gynecology , prenatal diagnosis , chorionic villus sampling , medicine , biology , genetics , pregnancy , chromosome , fetus , gene
Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32‐year‐old white female at 17·6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number 12 chromosome. Pathological examination of the fetus did not reveal significant physical abnormalities. This report illustrates the difficulty of confirming trisomy 12 mosaicism which has been detected on prenatal diagnosis. The presence of trisomy 12 in one placental cell obtained from the curettage specimen suggests the possibility of confined placental mosaicism in this case.