Prenatal diagnosis of Pallister‐Killian syndrome in one twin

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 micr...

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Detalles Bibliográficos
Autores principales: Li, Lin, Huang, Linhuan, Huang, Xuan, Lin, Shaobin, He, Zhiming, Fang, Qun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099054/
https://www.ncbi.nlm.nih.gov/pubmed/30147884
http://dx.doi.org/10.1002/ccr3.1624
Descripción
Sumario: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.

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