16q21 is critical for 16q deletion syndrome.
作者信息
Naritomi K, Shiroma N, Izumikawa Y, Sameshima K, Ohdo S, Hirayama K
机构信息
Department of Pediatrics, School of Medicine, University of the Ryukyus, Okinawa, Japan.
出版信息
Clin Genet. 1988 May;33(5):372-5. doi: 10.1111/j.1399-0004.1988.tb03464.x.
Abstract
A 1-year-old girl with an interstitial deletion of the long arm of chromosome 16 is reported. She was characterized by a distinct craniofacial dysmorphism, meningoencephalocele, mild hydrocephalus, short neck, broad great toes and abnormally positioned toes. High resolution GTG and RBG banding analyses revealed a karyotype: 46,XX,del(16) (q13q22) de novo. An analysis of the smallest region of overlap revealed that the critical band region for 16q deletion syndrome is 16q21.
摘要
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