Duplication of proximal 15q as a cause of Prader-Willi syndrome.
Duplication of proximal 15q as a cause of Prader-Willi syndrome.
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近端 15q 重复是导致 Prader-Willi 综合征的原因。
DOI：
10.1002/ajmg.1320280403
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发表时间：
1987
期刊：
影响因子：
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通讯作者：
Ledbetter,DH
中科院分区：
文献类型：
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作者：
Pettigrew,AL;Gollin,SM;Greenberg,F;Riccardi,VM;Ledbetter,DH
我们描述了近端15 q的明显重复，即，2例为15 q11 q12或15 q12 q13。使用前中期染色体分析、C显带和偏端霉素A/DAPI染色排除异常15同源物与另一条染色体之间的易位。这2例患者有多种Prader-Wili综合征（PWS）表现，包括以下至少5种：肥胖、强迫性进食、智力低下、身材矮小、中枢性张力减退、性腺功能减退、小手和小脚、色素减退和婴儿期喂养问题。双亲高分辨染色体分析结果均正常。这些患者与先前报告中的2例受试者之间的比较表明重复15 q PWS患者之间存在表型异质性。两名患者具有在染色体正常和缺失PWS患者中观察到的色素减退。这些病例增加了与PWS相关的15号染色体畸变的多样性。
We describe an apparent duplication of proximal 15q, i.e., 15qllql2 or 15ql2ql3 in two patients. Prometaphase chromosome analysis, C‐banding and distamycin A/DAPI staining were used to exclude a translocation between the abnormal 15 homolog and another chromosome. The 2 patients have many manifestations of the Prader‐Wil1i syndrome (PWS) including at least 5 of the following: obesity, compulsive eating, mental retardation, short stature, central hypotonia, hypogonadism, small hands and feet, hypopigmentation, and feeding problems in infancy. Results of high resolution chromosome analysis of the parents of both patients were normal. A comparison between these patients and 2 subjects from previous reports demonstrates phenotypic heterogeneity among the duplication 15q PWS patients. Two patients have the hypopigmentation seen in chromosomally normal and deletion PWS patients. These cases add to the variety of chromosome 15 aberrations which are associated with PWS.