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[3例近期努南综合征病例]

[3 recent cases of Noonan's syndrome].

作者信息

Vellieux F, Saint-Jacques I, Loubry P, Joly T, Boissière H

出版信息

Sem Hop. 1978 Mar;54(5-8):335-43.

PMID:211629
Abstract

In the present state of our knowledge of cytogenetics, it seems logical to distinguish Noonan's syndrome from Turner's syndrome, thanks to the following arguments: Althought there are minor differences in the morphotype, the small size and the mental retardation are the same in both cases. However there are two lines of evidence: The first, inconstant, concerns the lesser intensity of the gonad changes, especially in the female sex, explaining the relative frequency of the familial forms of the syndrome, of Noonan, which are then trasmitted as autosomic dominants with variable penetrance. The second, constant and formal until now, concern the chromosome abnormalities. Present in Turner's syndrome, which they help to define in both sexes, they are always absent in Noonan's syndrome, in boys as in girls.

摘要

就我们目前对细胞遗传学的认知状况而言,基于以下论据将努南综合征与特纳综合征区分开来似乎是合乎逻辑的:尽管在形态类型上存在细微差异,但两种病症的身材矮小和智力发育迟缓情况相同。然而,有两条证据线索:第一条,并不恒定,涉及性腺变化的程度较轻,尤其是在女性中,这解释了努南综合征家族形式相对较高的发生率,这些家族形式随后作为具有可变外显率的常染色体显性遗传传递。第二条,到目前为止一直恒定且形式明确,涉及染色体异常。染色体异常存在于特纳综合征中,有助于在两性中对其进行定义,而在努南综合征中,无论男孩还是女孩,染色体异常总是不存在的。

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