Open AccessPrenatal diagnosis of Pallister‐Killian syndrome in one twin
Author(s) -
Li Lin,
Huang Linhuan,
Huang Xuan,
Lin Shaobin,
He Zhiming,
Fang Qun
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1624
Subject(s) - medicine , prenatal diagnosis , fetus , obstetrics , genetics , pregnancy , biology
Key Clinical Message Pallister‐Killian syndrome ( PKS ) is often incidentally diagnosed prenatally due to ultrasound abnormalities or advanced maternal age. Severely shortened limbs could be the most outstanding abnormal observation in a fetus with PKS . PKS can be detected with the highest mosaic ratio by chromosomal microarray analysis ( CMA ) on uncultured amniocytes prenatally.