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

✍ Scribed by Cormier-Daire, Valérie; Le Merrer, Martine; Gigarel, Nadine; Morichon, Nicole; Prieur, Marguerite; Lyonnet, Stanislas; Vekemans, Michel; Munnich, Arnold

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
151 KB
Volume
69
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 microsatellite 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.

📜 SIMILAR VOLUMES

Parental origin of the isochromosome 12p
Parental origin of the isochromosome 12p in Pallister-Killian syndrome: Molecular analysis of one patient and review of the reported cases
✍ Struthers, J.L.; Cuthbert, C.D.; Khalifa, M.M. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

Pallister-Killian syndrome (PKS) is characterized by multiple congenital anomalies including pigmentary skin changes, mental retardation, and the mosaic presence of a tissue-limited isochromosome 12p [i(12p)]. Mechanism(s) of formation and parental origin of the isochromosome are not well understood