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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

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Prenatal diagnosis of Pallister-Killian syndrome in one twin.

Li Lin L   Huang Linhuan L   Huang Xuan X   Lin Shaobin S   He Zhiming Z   Fang Qun Q  

Clinical case reports 20180613 8

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. ...[more]

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