Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome.

doi:10.1002/ajmg.1320530211

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Article

Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome.

American journal of medical genetics - 1 Nov 1994

Rodríguez J I, Garcia I, Alvarez J, Delicado A, Palacios J

Abstract excerpt

The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by "coarse" face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a "coarse" face,...

Topics

Abnormalities, Multiple
Aneuploidy
Chromosomes, Human, Pair 12
Diagnosis, Differential
Epilepsy
Face
Female
Genes, Lethal
Hernia, Diaphragmatic
Humans
In Situ Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Intellectual Disability

Limb Deformities, Congenital

Male

Mosaicism

Phenotype

Syndrome

Source

Open in PubMed

Identifiers

PMID: 7856644
DOI: 10.1002/ajmg.1320530211

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7856644-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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