47,XYY karyotypes and pervasive developmental disorders
47,XYY karyotypes and pervasive developmental disorders
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DOI：
10.1177/070674379804300611
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发表时间：
1998-08-01
影响因子：
4
通讯作者：
Sloman, L
中科院分区：
文献类型：
--
作者：
Nicolson, R;Bhalerao, S;Sloman, L
目的：过去很少描述患有广泛性发育障碍 (PDD) 的男孩存在 47,XYY 核型。本文介绍了 2 名患有 PDD 和多生 Y 染色体的男孩。方法：描述了 2 名患者的病史以及相关检测结果。回顾了关于 47,XYY 核型男性的心理社会发展以及大脑形态和生理学的文献。结果：两个男孩都有典型的 PDD 表现，其中一个患有自闭症，另一个患有未另行指定的 PDD 结论：在一家发育障碍儿童诊所中，40 名男性转诊中的 2 名具有 47,XYY 核型，这表明这种性染色体异常的发生率可能会在儿童中增加。 PDD。额外的 Y 染色体可能与大脑发育异常有关，这反过来又可能使脆弱的男性更容易患上 PDD。
Objective: The presence of a 47,XYY karyotype in boys with pervasive developmental disorders (PDDs) has rarely been described in the past. Herein, 2 boys with PDDs and a supernumerary Y chromosome are presented.Methods: The case histories of the 2 patients are described along with the results of associated testing. The literature on psychosocial development as well as brain morphology and physiology in males with 47,XYY karyotypes is reviewed.Results: Both boys had presentations typical of PDDs, one with autistic disorder and the other with PDD not otherwise specifiedConclusions: The finding that, in a clinic for children with developmental disorders, 2 of 40 male referrals had 47,XYY karyotypes suggests that the rate of this sex chromosome anomaly may be increased in PDDs. An extra Y chromosome may be related to abnormal brain development, which may, in turn, predispose vulnerable males to PDDs.