期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 112, 期 2, 页码 154-159出版社
WILEY-LISS
DOI: 10.1002/ajmg.10699
关键词
9p direct duplication; homologous recombination; 9p duplication critical region; chromosome syndrome
We studied the case of a girl with a partial 9p duplication, dup(9)(p22.1-->p13.1). Molecular cytogenetics studies defined the chromosome 9 rearrangement as a direct duplication of 20 Mb from D9S1213 to D9S52. Microsatellite analysis demonstrated the presence of a double dosage of the paternal alleles and demonstrated that the duplication occurred between sister chromatids. The patient's phenotype was almost normal, with a few minor anomalies (dolichocephaly, crowded teeth, high arched palate) and normal IQ. The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6-Mb portion of chromosome 9p22 between markers D9S267 and D9S1213. (C) 2002 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据