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INTERSTITIAL DELETION OF 8Q13.3-]22.1 ASSOCIATED WITH CRANIOSYNOSTOSIS

被引：9
作者：
FRYBURG, JS
GOLDEN, WL
机构：
[1] Department of Pediatrics, Virginia Univ. Health Science Center, Box 386, Charlottesville
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 05期
关键词：
CHROMOSOME-8Q DELETION; CRANIOSYNOSTOSIS; LAMBDOIDAL SYNOSTOSIS;
D O I：
10.1002/ajmg.1320450524
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a 3-year-old girl who has an interstitial deletion of chromosome 8q [46,XX, del(8)(q13.3q22.1)]. She has severe mental retardation and minor anomalies in addition to lambdoidal synostosis. This is the first report of craniosynostosis in association with this chromosomal deletion. The manifestations of our patient are compared to those of previously reported patients with similar deletions.
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页码：638 / 641
页数：4
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