新发间质性缺失del(1)(p21p32)
De novo interstitial deletion del(1)(p21p32).
作者信息
Bene M, Duca-Marinescu A, Ioan D, Maximilian C
出版信息
J Med Genet. 1979 Aug;16(4):323-7. doi: 10.1136/jmg.16.4.323.
Abstract
A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).
摘要
报告了一名14岁9个月的女孩，超重，有严重精神运动发育迟缓、身材矮小、羊样面容、耳部畸形、骨骼和皮纹异常，以及1号染色体短臂部分缺失。核型为46,XX,del(1)(qter至p22::p32至pter)。
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