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Prenatal diagnosis of mosaicism 46, XX/46, XX, −21, +t(21q21q)
Author(s) -
Long Wenda S.,
Mennuti Michael T.,
Emanuel Beverly S.,
Zackai Elaine H.
Publication year - 1984
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.1970040111
Subject(s) - prenatal diagnosis , amnion , abnormality , fetus , chromosomal abnormality , chromosome abnormality , medicine , amniocentesis , genetic counseling , obstetrics , pregnancy , gynecology , pathology , karyotype , biology , chromosome , genetics , psychiatry , gene
Abstract Mosaicism for a structural chromosome abnormality in amniotic cell cultures indicative of true fetal mosaicism is a rare event. In addition to the laboratory findings the clinical interpretation for counselling in such cases is based on observation of the same abnormality in liveborns as well as previous experience with prenatal diagnosis of the same or similar abnormalities. We report here the prenatal diagnos is of 46,XX/46,XX,−21,+t(21q21q) which was confirmed in fetal skin cell and amnion cell cultures.