一名患有胱氨酸尿症的智力障碍儿童的平衡易位（14；20）
Balanced translocation (14;20) in a mentally handicapped child with cystinuria.
作者信息
Sharland M, Jones M, Bain M, Chalmers R, Hammond J, Patton M A
机构信息
South West Thames Regional Genetic Service, St George's Hospital Medical School, London.
出版信息
J Med Genet. 1992 Jul;29(7):507-8.
Abstract
A mentally handicapped 3 year old child with cystinuria is presented. Routine chromosomal analysis showed an apparently balanced de novo translocation in the child with breakpoints 14q22 and 20p13. Family studies suggested that the child is a type I/type II compound heterozygote for cystinuria. This translocation may indicate a possible locus for the gene for cystinuria.
摘要
本文报告了一名患有胱氨酸尿症的3岁智力障碍儿童。常规染色体分析显示，该儿童存在一条明显平衡的新发易位染色体，断点位于14q22和20p13。家系研究表明，该儿童是胱氨酸尿症的I型/II型复合杂合子。这种易位可能提示了胱氨酸尿症基因的一个潜在位点。
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