Terminal deletion of 6p results in a recognizable phenotype
Terminal deletion of 6p results in a recognizable phenotype
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DOI：
10.1002/ajmg.a.30784
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发表时间：
2005-07-15
影响因子：
2
通讯作者：
Hudgins, L
中科院分区：
文献类型：
--
作者：
Lin, RJ;Cherry, AM;Hudgins, L
随着细胞遗传学技术的改进，小缺失和重复的识别频率不断增加。我们报告了 4 例涉及 6p24-和 6p25-pter 染色体片段的末端缺失病例，这些病例表现出明显的、可识别的畸形模式，包括距离过远、下斜睑裂、扁平鼻桥、Dandy-Walker 畸形/变异、先天性心脏缺陷、前眼房异常、听力损失和发育迟缓。我们还将这些患者的临床情况与文献中先前报道的具有类似 6p 染色体末端缺失的病例进行了比较。常规染色体分析可能会遗漏这种缺失，因此，对于表现出这些独特特征的个体，需要进行高分辨率染色体分析。此外，具有这种缺失的个体应该进行眼科检查、心脏评估、头部成像、肾脏超声和正式的听力评估。 (c) 2005 年 Wiley-Liss, Inc.
With improved cytogenetic techniques, small deletions and duplications are being identified with increased frequency. We report four cases with terminal deletions involving the 6p24- and 6p25-pter chromosomal segment who exhibit a distinct, recognizable pattern of malformations including hypertelorism, downslanting palpebral fissures, flat nasal bridge, Dandy-Walker malformation/variant, congenital heart defects, anterior eye-chamber abnormalities, hearing loss, and developmental delay. We also compare the clinical aspects of these patients to those of previously reported cases in the literature with similar terminal deletions of chromosome 6p. Routine chromosome analysis can miss this deletion, therefore, high-resolution chromosome analysis is indicated for individuals who exhibit these distinct features. Furthermore, individuals with this deletion should have an ophthalmologic exam, cardiac evaluation, head imaging, renal ultrasound, and formal hearing evaluation. (c) 2005 Wiley-Liss, Inc.