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45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones
Author(s) -
Hecht Frederick,
Hecht Barbara Kaiser
Publication year - 1982
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.1970020314
Subject(s) - amniocentesis , fetus , y chromosome , karyotype , chromosome , biology , aneuploidy , x chromosome , pregnancy , obstetrics , prenatal diagnosis , genetics , gynecology , andrology , medicine , gene
Amniocyte clones from a mid‐trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro‐genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.