a型血友病患者染色体22q11.2微缺失的研究

Murat Derbent , Namık Özbek , Füsun Alehan , Zerrin Yılmaz
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引用次数: 1

摘要

我们报告了一名6岁的a型血友病患者,他也表现出22q11.2缺失综合征(22qDS)的典型临床特征。具体表现为轻度智力低下、言语迟缓、鼻音过重、音质和发音缺陷、睑裂狭窄、鼻根宽凹陷、上颚高弓、小口、双耳叠耳。患者没有相关的先天性心脏或腭畸形。在新生儿和没有先天性心脏缺陷的婴儿中识别这种综合征尤其困难。该病例强调,任何表现出22qDS典型临床特征的患者,无论是否患有其他单基因疾病,都应考虑染色体22q11.2的微缺失。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Chromosome 22q11.2 microdeletion in a patient with hemophilia A

We report a 6-year-old patient with hemophilia A, who also exhibited clinical features typical of 22q11.2 deletion syndrome (22qDS). The specific traits were mild mental retardation, speech delay, hypernasal speech, deficits in voice quality and articulation, narrow palpebral fissures, broad and depressed nasal root, high-arched palate, microstomia, and overfolded ears. The patient had no associated congenital cardiac or palatal malformations. It can be particularly difficult to identify this syndrome in newborns and infants without congenital heart defects. This case underlines that microdeletion of chromosome 22q11.2 should be considered in any patient who exhibits typical clinical features of 22qDS, regardless of whether they have another single-gene disorder.

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