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性染色体异常儿童的早期发育

Early development of children with sex chromosome aberrations.

作者信息

Haka-Ikse K, Stewart D A, Cripps M H

出版信息

Pediatrics. 1978 Nov;62(5):761-6.

PMID:82932
Abstract

A prospective study was made of 42 children who were found at birth to have sex chromosome aberrations. The mean developmental quotient of the XXY and XXX groups was in the dull-normal range, whereas developmental quotients of 3 XYY children were low normal. The commonest deficits were in language and gross motor skills, with highest incidence in the XXX group. Many of the children had behavior problems, but no specific pattern was associated with an individual chromosome aberration. The XXX group experienced a linear growth spurt after 4 years of age. With one exception there were only mild dysmorphic features, none of them specifically associated with any subgroup. Of 17 children followed up to school age, almost two thirds evidenced learning and/or behavior problems. There was a high incidence of birth problems particularly in XXX children (seven of ten), and of social problems, psychiatric illness and learning difficulties in their families. In 14 cases, the parent-child relationship was disturbed, resulting in behavior problems. These findings make it improbable that the children's generally poor developmental and behavioral performance were solely attributable to their chromosomal constitution.

摘要

对42名出生时被发现有性染色体畸变的儿童进行了一项前瞻性研究。XXY组和XXX组的平均发育商处于迟钝-正常范围内,而3名XYY儿童的发育商则处于低正常范围。最常见的缺陷在于语言和大运动技能,在XXX组中发生率最高。许多儿童有行为问题,但没有特定模式与个体染色体畸变相关联。XXX组在4岁后经历了线性生长突增。除一例例外,仅有轻度的畸形特征,且没有任何一种特征与任何亚组有特定关联。在随访至学龄期的17名儿童中,近三分之二有学习和/或行为问题。出生问题的发生率很高,尤其是在XXX儿童中(十名中有七名),并且他们的家庭中存在社会问题、精神疾病和学习困难。在14例中,亲子关系受到干扰,导致行为问题。这些发现表明,儿童普遍较差的发育和行为表现不太可能仅仅归因于他们的染色体构成。

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Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review.性染色体三体个体的神经认知结果:XXX、XYY 或 XXY:系统评价。
Dev Med Child Neurol. 2010 Feb;52(2):119-29. doi: 10.1111/j.1469-8749.2009.03545.x. Epub 2010 Jan 5.
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Dyslexia in 47,XXY boys identified at birth.出生时确诊的47,XXY男孩的阅读障碍。
Behav Genet. 1986 May;16(3):343-54. doi: 10.1007/BF01071315.
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Brief report: a 48XXXY/49XXXXY male with expressive speech defect.简短报告:一名患有表达性言语缺陷的48XXXY/49XXXXY男性。
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