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The level of 6‐phosphogluconate dehydrogenase (6‐PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub‐band p36.3 on chromosome 1

 

作者: M. W. Steele,   S. L. Wenger,   L. O. Geweke,   W. L. Golden,  

 

期刊: Clinical Genetics  （WILEY Available online 1984）
卷期: Volume 25, issue 1  

页码: 59-62

 

ISSN:0009-9163

 

年代: 1984

 

DOI:10.1111/j.1399-0004.1984.tb00463.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Deletion 1p36.3;dicentric chromosome;mapping 6‐PGD locus

 

数据来源: WILEY

 

摘要:

A rare case of chromosome 1p deletion is reported in a mentally retarded male infant with a derived chromosome: 45, XY, ‐1, ‐13, tdic(1;13) (1qter → 1p36.2:13p11.2 → 13qter). Parental chromosomes were normal. Since the patient's 6‐PGD specific activity was in the normal range, it is probable that he retained both 6‐PGD alleles. Consequently, if a dosage affect exists, then the locus for 6‐PGD must be proxi

 

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