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与标记X相关的智力迟钝。对150名智力迟钝男性的研究。

Marker X-associated mental retardation. A study of 150 retarded males.

作者信息

Kähkönen M, Leisti J, Wilska M, Varonen S

出版信息

Clin Genet. 1983 Jun;23(6):397-404. doi: 10.1111/j.1399-0004.1983.tb01973.x.

Abstract

One hundred and fifty male patients with mental retardation of unknown origin were studied cytogenetically. Six patients (4%) were marker X-positive. All these index cases were found in a subgroup of patients with no dysmorphic features, significant neurological findings or childhood psychosis. In this subgroup the frequency was 8.8%. One of the index cases had a family history suggestive of X-linked mental retardation, four had retarded 1st degree relatives and one had no family history of mental retardation.

摘要

对150例病因不明的男性智力障碍患者进行了细胞遗传学研究。6例患者(4%)X染色体标记阳性。所有这些索引病例均来自一组无畸形特征、明显神经学表现或儿童期精神病的患者亚组。在该亚组中,发生率为8.8%。其中1例索引病例有提示X连锁智力障碍的家族史,4例有智力发育迟缓的一级亲属,1例无智力障碍家族史。

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