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Placental mosaicism in a case of 46,XY, −22, +t(22;22)(p11;q11) or i(22q) diagnosed at amniocentesis
Author(s) -
Spinner Nancy B.,
Gibas Ze,
Kline Rochelle,
Berger Bruce,
Jackson Laird
Publication year - 1992
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.1970120107
Subject(s) - amniocentesis , karyotype , fetus , trisomy , amniotic fluid , prenatal diagnosis , aneuploidy , medicine , gynecology , biology , obstetrics , andrology , pregnancy , chromosome , genetics , gene
46,XY, −22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31‐year‐old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from the abortus revealed the same karyotype as that seen on amniocentesis, but the placenta demonstrated a 46,XY,46,XY, −22,+t(22;22) or i(22q) mosaicism, with 65 per cent of the cells being 46,XY. This case provides an example of placental mosaicism for a normal male karyotype, while the fetus demonstrated non‐mosaic trisomy 22.