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Phenotypic overlapping of trisomy 12p and Pallister–Killian syndrome

✍ Scribed by Eisuke Inage; Mitsuyoshi Suzuki; Kei Minowa; Nahoko Akimoto; Ken Hisata; Hiromichi Shoji; Akihisa Okumura; Keiko Shimojima; Toshiaki Shimizu; Toshiyuki Yamamoto


Book ID
116433254
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
227 KB
Volume
53
Category
Article
ISSN
1769-7212

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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