【浮港综合征病例的临床及分子遗传学特征】。

N A Makretskaya, O R Ismagilova, E A Shestopalova, M V Sharova, O A Levchenko, A V Bolmasova, M V Bulakh, V V Zabnenkova, A A Orlova, A A Kolodkina, O P Ryzhkova, A V Poliakov, A N Tiulpakov
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引用次数: 0

摘要

浮港综合征是一种常染色体显性遗传病,是一组生长迟缓的一部分。该综合征的主要临床特征是身材矮小,语言发育迟缓,面部特征奇特:三角形脸,下巴窄,眼睛深陷,滤镜短,大造口,鼻梁窄,鼻根和鼻尖宽,鼻梁下垂。该综合征与截断的杂合致病性变异有关,发生在SRCAP的33和34外显子。异质性和缺乏具体的临床特征使这种诊断的制定复杂化,这需要分子遗传学验证。在本文中,我们首次描述了俄罗斯联邦6例确诊的浮港综合征患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

[Clinical and molecular genetic features of cases of Floating-Harbor syndrome].

[Clinical and molecular genetic features of cases of Floating-Harbor syndrome].

Floating-Harbor syndrome is an autosomal dominant genetic disorder that is part of a group of growth retardation. The main clinical features of syndrome are short stature, delayed speech development and peculiar facial features: triangular face with a narrow chin, deeply set eyes, a short filter, a macrostomy, a nose with a narrow bridge and wide base and tip, a drooping columella. The syndrome is associated with heterozygous pathogenic variants were truncating and occurred in 33 and 34 exons of SRCAP. Heterogeneity and the absence of specific clinical features complicates the formulation of this diagnosis, which necessitates molecular genetic verification. In this paper, we present the first description of 6 patients with proven Floating-Harbor syndrome in the Russian Federation.

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