新发3号环状染色体：一例具有轻度表型的新病例。
De novo ring chromosome 3: a new case with a mild phenotype.
作者信息
McKinley M, Colley A, Sinclair P, Donnai D, Andrews T
机构信息
Department of Medical Genetics, St Mary's Hospital, Manchester.
出版信息
J Med Genet. 1991 Aug;28(8):536-8. doi: 10.1136/jmg.28.8.536.
Abstract
We report an 18 year old female with a de novo ring chromosome 3 found after investigation for short stature. Her karyotype was interpreted as 46,XX, r(3)(p26.2q29). Her phenotype is milder than previously reported cases and illustrates the mild end of the spectrum of the ring chromosome 3 phenotype.
摘要
我们报告了一名18岁女性，因身材矮小接受检查后发现一条新发的3号环状染色体。她的核型被解释为46,XX,r(3)(p26.2q29)。她的表型比先前报道的病例更轻，显示了3号环状染色体表型范围的轻度一端。
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