FURTHER STUDY OF GENETIC INTERACTIONS - LOSS OF SHORT ARM MATERIAL IN PATIENTS WITH RING CHROMOSOME-4 CHANGES DEVELOPMENTAL PATTERN OF DEL(4)(Q33)

被引：14
作者：
LURIE, IW
机构：
[1] Division of Human Genetics, Baltimore, MD 21201-1703
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 03期
关键词：
LIMB DEFICIENCY; ECTRODACTYLY; ULNAR RAY DEFECTS; RADIAL RAY DEFECTS;
D O I：
10.1002/ajmg.1320560319
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Segment 4q33 is not considered a probable location of a gene related with limb deficiency by Roberts and Tabin [Am J Hum Genet 55:1-6, 1994]; however, the occurrence of ectrodactyly or its equivalents in at least 9 published cases of monosomy 4q33 suggests probable location of one of these genes in that region. Ulnar ray defects and/or ectrodactyly were the prevailing forms. An additional loss of the tip of 4p in patients with ring chromosome 4 leads to a change of limb deficiency type: 8 of 9 patients with r(4) and limb deficiency had radial ray defects. Therefore, interactions between a proposed 1/2 dose ''ectrodactyly'' gene on 4q33 and some 1/2 dosage genes on distal 4p (or disturbed cellular homeostasis due to a ring chromosome 4) can change the developmental pattern of limb deficiency. Possible mechanisms and significance of the phenomenon are discussed. (C) 1995 Wiley-Liss, Inc.
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页码：308 / 311
页数：4
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