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

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.

• Authors: D R McLeod, L R Wesselman, D I Hoar
• Journal: Journal of medical genetics (J Med Genet) Vol. 28 Issue 8 Pg. 541-3 (Aug 1991) ISSN: 0022-2593 [Print] England
• PMID: 1920372 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (genetics)
• Anus, Imperforate (genetics)
• Chromosomes, Human, Pair 12
• Cleft Palate (genetics)
• Female
• Hernia, Diaphragmatic (genetics)
• Humans
• Infant, Newborn
• Karyotyping
• Mosaicism
• Phenotype
• Sacrum (abnormalities)
• Syndrome