Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage. Issue 8 (August 1991)

• Record Type: Journal Article
• Authors: McLeod, D R; Wesselman, L R; Hoar, D I
• Is Part Of: Journal of medical genetics. Volume 28:Issue 8(1991)
• Page Start: 541
• Page End: 543
• Publication Date: 1991-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.28.8.541
• Languages: English
• ISSNs: 1468-6244

Abstract

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.