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Post‐mortem findings in a fetus with 48,XXY, + 21
Author(s) -
Smith A.,
Watson G.,
Michas J.,
Vtersbach R.,
Ellwood D.
Publication year - 1991
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.1970110711
Subject(s) - clinodactyly , amniocentesis , fetus , karyotype , prenatal diagnosis , medicine , abnormality , aneuploidy , andrology , gynecology , biology , obstetrics , anatomy , pregnancy , chromosome , genetics , psychiatry , gene
A fetus with 48,XXY, + 21 was detected on routine amniocentesis at 15 weeks for advanced maternal age. Fibroblast cultures from six different tissues were initiated after termination and each showed the same karyotype without any tissue limited mosaicism. The only pheno‐typic abnormality detected at post‐mortem examination was bilateral clinodactyly of the fifth finger which had been detected on ultrasound. The maternal serum alpha‐fetoprotein and the femur length were normal. Maternal age remains an essential criterion for prenatal diagnosis.