Pallister-Killian syndrome: report of one case.
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.
Wu
Hui-Chung
HC
Department of Pediatrics, Cathay General Hospital- Sijhih, No. 2, Lane 59, Jiancheng Rd., Sijhih City, Taipei 221, Taiwan.
Lin
Lung-Huang
LH
Tsai
Li-Ping
LP
Huang
Cheng-Hung
CH
Hung
Kun-Long
KL
Liao
Hung-Tsai
HT
D000015:Abnormalities, Multiple / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D013577:Syndrome