DE-NOVO TANDEM DUPLICATION OF CHROMOSOME SEGMENT 22QLL-Q12 - CLINICAL, CYTOGENETIC, AND MOLECULAR CHARACTERIZATION

被引：29
作者：
LINDSAY, EA
SHAFFER, LG
CARROZZO, R
GREENBERG, F
BALDINI, A
机构：
[1] BAYLOR COLL MED,DEPT MOLEC & HUMAN GENET,HOUSTON,TX 77030
[2] BAYLOR COLL MED,CTR HUMAN GENOME,HOUSTON,TX 77030
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 03期
关键词：
CHROMOSOME; 22; DUPLICATION; CAT-EYE SYNDROME; CONGENITAL HEART DEFECT;
D O I：
10.1002/ajmg.1320560316
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a case of duplication of the segment 22q11-q12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D22Z4, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker proximal to the Ewing sarcoma breakpoint. The segment includes the regions responsible for the ''cat-eye,'' Di George, and velo-cardio-facial syndromes and extends distal to the breakpoint cluster region (BCR). The clinical picture is dominated by the cardiac defects and includes findings reminiscent of ''cat-eye'' syndrome. These findings reinforce the hypothesis that the proximal 22q region contains dosage-sensitive genes involved in development. (C) 1995 Wiley-Liss, Inc.
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收藏
页码：296 / 299
页数：4
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