Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.
case_report · Level V
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- Record sourced from PubMed, PMID 1920372.
- Also identified by PMC identifier 1016985.
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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.
Medical subject headings
- Abnormalities, Multiple
- Chromosomes, Human, Pair 12
- Cleft Palate
- Mosaicism