Premium
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom