Pallister-Killian syndrome: Report of one case

Department of Pediatrics, Cathay General Hospital- Sijhih, No. 2, Lane 59, Jiancheng Rd., Sijhih City, Taipei 221, Taiwan.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 01/2006; 47(3):139-41.
Source: PubMed


Pallister-Killian Syndrome (PKS) is a rare sporadic congenital anomaly disorder, characterized by multiple congenital anomalies, especially craniofacial dysmorphism. It is also associated with mental retardation, seizure, skin pigmentation, and visceral malformations such as congenital diaphragmatic hernia, congenital heart defect, anorectal anomalies, and genital malformation. This syndrome usually presents with tissue-limited mosaicism of supernumerary 12p isochromosome i (12p). Moreover, diagnosis of Pallister-Killian Syndrome (PKS) is difficult because the ratio of abnormal to normal karyotyping is much lower in peripheral lymphocytes than in skin fibroblasts. We report the first case in Taiwan, who has tetrasomy 12p mosaic in peripheral lymphocytes.

Download full-text


Available from: Kun-Long Hung, Jan 20, 2015
1 Follower
12 Reads
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations.
    American Journal of Medical Genetics Part C Seminars in Medical Genetics 05/2007; 145C(2):158-71. DOI:10.1002/ajmg.c.30126 · 3.91 Impact Factor