2q14 de novo interstitial deletion in a girl with intellectual disabilities and malformations

Yomisisleidy B. Alvarez, A. García, L. M. Rosales, L. Méndez-Rosado
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引用次数: 0

Abstract

Background: Neurodevelopmental disorders have a prevalence of approximately 3% in the population, the genetic factor is involved in this condition. Microdeletions that comprise the 2q14.1q14.3 region are rare events. The aim of the study: To describe a girl with an interstitial deletion of the 2q14 region with a severely affected phenotype and to compare her with reports from the international literature. Materials and methods: Cell culture and the obtaining of chromosomes were carried out according to the standardized techniques in our laboratory. Results: Girl evaluated for dismorphias and brain malformation (corpus callosum agenesis). The chromosomal study with a resolution of 565 bands showed an interstitial deletion in the long arm of chromosome 2. Karyotype: 46, XX, del (2) (q14.1q14.2). Conclusion: The correct clinical analysis of the patient and the high-resolution cytogenetic technique has been successful for detection of the microdeletion in this case helping in genetic counseling and in elucidating the genetic origin of the patient's neurodevelopmental disorder.
智力残疾和畸形女童的2q14间质缺失
背景:神经发育障碍在人群中的患病率约为3%,遗传因素与此有关。包含2q14.1q14.3区域的微缺失是罕见的事件。本研究的目的:描述一名患有严重影响表型的2q14区域间质缺失的女孩,并将其与国际文献的报道进行比较。材料和方法:细胞培养和染色体获取按实验室标准化技术进行。结果:女孩被评估为畸形和脑畸形(胼胝体发育不全)。565条带分辨率的染色体研究显示2号染色体长臂存在间质缺失。核型:46,XX, del (2) (q14.1q14.2)。结论:正确的患者临床分析和高分辨率细胞遗传学技术成功地检测了本病例的微缺失,有助于遗传咨询和阐明患者神经发育障碍的遗传起源。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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CiteScore
1.50
自引率
0.00%
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