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Article

Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype.

American journal of medical genetics - 16 Oct 1996

Bielanska M M, Khalifa M M, Duncan A M

Abstract excerpt

Pallister-Killian syndrome (PKS) is a rare disorder characterized by a specific combination of anomalies, mental retardation and mosaic presence of a supernumerary isochromosome 12p which is tissue-limited. We report an atypical case of PKS with a mild phenotype. Flourescence in situ hybridization (FISH) was used to demonstrate that the supernumerary marker chromosome identified in the patient's fibroblasts was...

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Source

Identifiers

PMID: 8911599
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.0.CO;2-S

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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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