BALANCED TRANSLOCATION (14 20) IN A MENTALLY-HANDICAPPED CHILD WITH CYSTINURIA

被引：0
作者：
SHARLAND, M
JONES, M
BAIN, M
CHALMERS, R
HAMMOND, J
PATTON, MA
机构：
[1] ST GEORGE HOSP,SCH MED,DEPT CHILD HLTH,LONDON SW17 0RE,ENGLAND
[2] QUEEN MARYS HOSP CHILDREN,DEPT PAEDIAT,CARSHALTON SM5 4NR,SURREY,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 07期
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D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：507 / 508
页数：2
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