CLINICAL AND CYTOGENETIC SURVEY OF 39 INDIVIDUALS WITH PRADER-LABHART-WILLI SYNDROME
CLINICAL AND CYTOGENETIC SURVEY OF 39 INDIVIDUALS WITH PRADER-LABHART-WILLI SYNDROME
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DOI：
10.1002/ajmg.1320230307
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发表时间：
1986-03-01
期刊：
影响因子：
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通讯作者：
PALMER, CG
中科院分区：
文献类型：
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作者：
BUTLER, MG;MEANEY, FJ;PALMER, CG
在对39例Prader-Labhart-willi综合征（PLWS）患者（23例男性和16例女性，年龄从2周至39岁）的临床和细胞遗传学调查中，在21例病例中发现了15号染色体（断点q11和q13）的间质缺失，其余病例中发现了明显正常的染色体。对父母15号染色体变异体的研究表明，del[15 q]是父系起源的，尽管父母双方的染色体都是正常的。所有染色体缺失均为新发事件。染色体缺失的可能原因和染色体重排在PLWS患者中的作用进行了讨论。记录了缺失组和非缺失组的临床特征，并与文献中报道的124名个体进行比较。研究发现，染色体缺失的个体比染色体正常的个体有更浅的头发、眼睛和皮肤颜色，更强的阳光敏感性和更高的智力得分。掌指模式配置文件变量和皮纹的相关性研究结果表明，明显的同质性的缺失组和PLWS和正常染色体的个体的异质性。
In a clinical and cytogenetic survey of 39 individuals with Prader-Labhart-willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 (breakpoints q11 and q13) was identified in 21 cases and apparently normal chromosomes in the remainder. Studies of parental chromosome 15 variants showed that the del[15q] was paternal in origin, although chromosomes of both parents were normal. All chromosome deletions were de novo events. Possible causes for the chromosome deletion and the role of chromosome rearrangements in individuals with PLWS are discussed. Clinical characteristics of the deletion and nondeletion groups were recorded and compared with 124 individuals reported in the literature. Individuals with the chromosome deletion were found to have lighter hair, eye, and skin color, greater sun sensitivity, and higher intelligence scores than individuals with normal chromosomes. Correlation studies of metacarpophalangeal pattern profile variables and dermatoglyphic findings indicate apparent homogeneity of the deletion group and heterogeneity of individuals with PLWS and normal chromosomes.