UNIQUE KARYOTYPES IN 2 PATIENTS WITH PRADER-WILLI SYNDROME

被引：7

作者：

NARAHARA, K ^{[1
]}

HIRAMOTO, K ^{[1
]}

MURAKAMI, M ^{[1
]}

MIYAKE, S ^{[1
]}

TSUJI, K ^{[1
]}

YOKOYAMA, Y ^{[1
]}

NAMBA, H ^{[1
]}

NINOMIYA, S ^{[1
]}

MURAKAMI, R ^{[1
]}

SEINO, Y ^{[1
]}

机构：

[1] KAGAWA PREFECTURAL CENT HOSP,DEPT PEDIAT,TAKAMATSU,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 05期

关键词：

PRADER-WILLI SYNDROME CHROMOSOME REGION; CHROMOSOME-15; ROBERTSONIAN TRANSLOCATION; ISODICENTRIC CHROMOSOME; CONTIGUOUS GENE DISORDER;

D O I：

10.1002/ajmg.1320420509

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A physical disruption of the Prader-Willi syndrome (PWS) chromosome region is thought to cause PWS. We describe 2 girls with PWS phenotype, who had unique chromosome 15 abnormalities. The first patient showed mosaicism: 45,XX,t(15;15)(qter --> p11.1::q11.200 --> qter)/46,XX,t(15;15)(qter --> p11.1::q11.200 --> qter), +mar. The band 15q11.2 apparently remained intact in the t(15;15) chromosome, and the mar chromosome was considered as r(15) (p11.1q11.1). The second patient had a karyotype of 47,XX,del(15)(q11.200 --> q11.207), +idic (15)(pter --> q11.1::q11.1 --> pter). The complex breakage and reunion involving the 15q11.2 regions of the father's homologous chromosomes 15 at meiosis appeared to have resulted in the idic(15) and the del(15) chromosomes. These cytogenetic findings suggest that the PWS chromosome region may be localized on the very proximal portion of band 15q11.2.

引用

页码：671 / 677

页数：7

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