Prenatal diagnosis of Pallister-Killian syndrome in one twin.

ABSTRACT: 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.

SUBMITTER: Li L 

PROVIDER: S-EPMC6099054 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature