Pallister‐Killian syndrome: Review of fetal phenotype

Pallister‐Killian syndrome is a multi‐system sporadic disorder with developmental delay. It is a rare chromosomal abnormality involving supernumerary isochormosome 12p. The disorder exhibits tissue specific mosaicism. The first prenatal diagnosis of PKS was reported in 1985 after ultrasound detectio...

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Veröffentlicht in:	Clinical genetics 2019-01, Vol.95 (1), p.79-84
Hauptverfasser:	Thakur, S., Gupta, R., Tiwari, B., Singh, N., Saxena, K.K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosome Aberrations Chromosome Disorders - diagnosis Chromosome Disorders - genetics Chromosome Disorders - pathology Chromosomes, Human, Pair 12 - genetics congenital diaphragmatic hernia Developmental Disabilities - diagnosis Developmental Disabilities - genetics Developmental Disabilities - pathology Female Fetuses Humans In Situ Hybridization, Fluorescence isochromosome 12 p Karyotyping microarray Mosaicism Pallister‐Killian syndrome Phenotype Phenotypes polyhydramnios Pregnancy Prenatal Diagnosis Supernumerary tetrasomy Ultrasonography, Prenatal Ultrasound
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