Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples.

ABSTRACT:

Background

Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the presence of the extra isochromosome 12p. PKS is featured by the tissue-limited mosaicism of the isochromosome 12p [i(12p)]. There were a wide spectrum of prenatal ultrasound findings of PKS, which made it difficult to be found in first or second trimester. Polyhydramnios, diaphragmatic hernia, and rhizomelic limb shortening were the most common prenatal ultrasound abnormalities in PKS. This study retrospectively analyzed the ultrasound findings and molecular cytogenetic results of four PKS fetuses diagnosed by using cord blood samples.

Results

The ultrasound anomalies of four PKS fetuses are described as follows: fetal mac

SUBMITTER: Wang T 

PROVIDER: S-EPMC6717365 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature