Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.
Open Access
- 1 August 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (8) , 541-543
- https://doi.org/10.1136/jmg.28.8.541
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.Keywords
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