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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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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