Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome

Pallister-Killian syndrome is a rare disorder comprising multiple congenital anomalies, streaks of hypo(hyper)pigmentation, seizures, profound mental retardation, and the presence of an extra metacentric chromosome i(12)(p10), usually limited to skin fibroblasts. The mechanism and parental origin of the extra chromosome i(12)(p10) are unknown. Here, we present a girl with Pallister-Killian syndrome and the i(12)(p10) in 50% of cultured skin fibroblasts. Using micro-satellite DNA markers of chromosome 12p, we detected 3 alleles—including 2 different alleles of maternal origin—in cultured skin fibroblasts, suggesting that the tetrasomy 12p is the result of a prezygotic event, with a nondisjunction event during maternal meiosis. Am. J. Med. Genet. 69:166–168, 1997. © 1997 Wiley-Liss, Inc.