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Article

Pallister-Killian syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2014

Izumi Kosuke, Krantz Ian D

Abstract excerpt

Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, congenital diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy. PKS is caused by extra copies of chromosome 12p, most characteristically a marker isochromosome 12p that demonstrates tissue-limited mosaicism. The cytogenetic diagnosis of PKS is often cumbersome due...

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Identifiers

PMID: 25425112
DOI: 10.1002/ajmg.c.31423

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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