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Pallister‐Killian syndrome diagnosed by chorionic villus sampling
Author(s) -
Sharland Michael,
Hill Lucille,
Patel Rashmi,
Patton Michael
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.1970110712
Subject(s) - chorionic villus sampling , isochromosome , prenatal diagnosis , medicine , obstetrics , pregnancy , chorionic villi , karyotype , gynecology , polyhydramnios , fetus , genetics , biology , chromosome , gene
The first prenatal diagnosis of Pallister‐Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.