使用X和Y特异性探针的非同位素原位杂交技术对一条小标记染色体进行鉴定和特征分析。
Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes.
作者信息
Crolla J A, Smith M, Docherty Z
机构信息
Paediatric Research Unit, United Medical School, Guy's Hospital, London.
出版信息
J Med Genet. 1989 Mar;26(3):192-4. doi: 10.1136/jmg.26.3.192.
Abstract
A 13 year old male with mild mental retardation, obesity, and poor secondary sexual differentiation was found to have a 46,X,+,mar karyotype. In situ hybridisation with X and Y specific probes proved the marker to be composed of Y centromeric and short arm material.
摘要
一名13岁男性，有轻度智力发育迟缓、肥胖及继发性性征发育不良，其核型为46,X,+,mar。用X和Y特异性探针进行原位杂交证明该标记物由Y着丝粒和短臂物质组成。
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