一名身材矮小和性腺功能减退的青少年Y染色体长臂缺失。
Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism.
作者信息
Botella-Carretero J I, Valero M A, Valcorba I, Ezquieta B, Alonso M, Barrio R
机构信息
Department of Pediatrics, Hospital Ramón y Cajal, Madrid, Spain.
出版信息
J Pediatr Endocrinol Metab. 2001 Jan;14(1):103-6. doi: 10.1515/jpem.2001.14.1.103.
PMID:11220698
Abstract
We describe a patient with short stature more than that expected for non-treated congenital adrenal hyperplasia due to nonclassic 21-hydroxylase deficiency with deletions in the long arm of the Y chromosome including the CGY gene and the AZF subregions.
摘要
我们描述了一名身材矮小的患者，其身材矮小程度超过了因非经典21-羟化酶缺乏所致未经治疗的先天性肾上腺皮质增生症患者的预期，该患者Y染色体长臂存在缺失，包括CGY基因和AZF亚区域。
Zotero 插件