[三体病的遗传病因]。

Q4 Nursing

Soins Psychiatrie Pub Date : 2025-07-01 Epub Date: 2025-06-10 DOI:10.1016/j.spsy.2025.05.009

Robin Maindron, Serena Giuntini, Jean-Pierre Bouchard

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引用次数: 0

摘要

三体是一种以一对或多对染色体异常存在为特征的遗传异常。人类物种中最常见和研究最多的三体形式是21三体，或唐氏综合症，因为它的患病率及其医学，心理和社会影响。13三体（Patau综合征）和18三体（Edwards综合征）也因其生存能力而相当常见并被广泛考虑。这些形式中的每一种都有不同的和特定的临床后果，通常与先天性畸形和不同程度的智力损伤有关。

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[Genetic etiology of trisomy].

Trisomies are genetic anomalies marked by the abnormal presence of an extra chromosome in one or more pairs. The most common and most studied form of trisomy in the human species is trisomy 21, or Down's syndrome, because of its prevalence and its medical, psychological and social implications. Trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) are also fairly frequent and widely considered because of their viability. Each of these forms has varied and specific clinical consequences, often associated with congenital malformations and different levels of intellectual impairment.

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来源期刊

Soins Psychiatrie Nursing-Psychiatric Mental Health

CiteScore

0.30

自引率

0.00%

发文量

期刊介绍： La revue Soins Psychiatrie adresse a tous les acteurs du soin en santé mentale, soignants et partenaires sociaux quel que soit leur lieu de exercice : hospitalisation traditionnelle, secteur, foyer, HAD, domicile..., tissant ainsi un vaste réseau entre tous les lieux de soins et de santé mentale. Le interdisciplinarité est le maitre mot des équipes en psychiatrie, tant il est vrai que le soignant existe pas en tant que entité séparée. Ayant comme pole fédérateur le patient reconnu comme individu a part entière avec toute son histoire, la revue réunit, dans chaque numéro, les écrits de professionnels aux compétences variées. Les textes sont sélectionnés par un Comité de rédaction appuyé par des conseillers.