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Article

Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.

Journal of medical genetics - 1 Aug 1991

McLeod D R, Wesselman L R, Hoar D I

Abstract excerpt

We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of...

Topics

Abnormalities, Multiple
Anus, Imperforate
Chromosomes, Human, Pair 12
Cleft Palate
Female
Hernia, Diaphragmatic
Humans
Infant, Newborn
Karyotyping
Mosaicism
Phenotype
Sacrum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Syndrome

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Identifiers

PMID: 1920372
DOI: 10.1136/jmg.28.8.541
PMCID: PMC1016985

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1920372-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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