LymphedemaV1, Main, Exploration, bibRecord, 00D741

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

Identifieur interne : 00D741 ( Main/Exploration ); précédent : 00D740; suivant : 00D742

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

Auteurs : D R Mcleod [Canada] ; L R Wesselman [Canada] ; D I Hoar [Canada]

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 1991-08.

RBID : ISTEX:620EA7CDD9B222F5AA3FA57C989688B24ADC85ED

Abstract

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 diaphragmatic hernia associated with other malformations.

Url:

DOI: 10.1136/jmg.28.8.541

Affiliations:

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

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

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