Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
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DOI：
10.1002/ajmg.a.31188
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发表时间：
2006-04-15
影响因子：
2
通讯作者：
Silengo, M
中科院分区：
文献类型：
--
作者：
Ferrero, GB;Belligni, E;Silengo, M
我们描述了一名 3 岁男孩，患有胼胝体完全发育迟缓/智力低下、膈前疝、Morgagni 型、严重远视和面部畸形，提示诊断为 Donnai-Barrow 综合征。亚端粒 FISH 分析显示父系来源的 t(9; 16) (q34.3;q24.3) 易位，具有部分 9q 单体和部分 16q 三体。由于一些面部特征类似于 9q 新兴表型，我们提出假设，一些 Donnai-Barrow 综合征患者可能归因于 9q 末端缺失。 (c) 2006 Wiley-Liss, Inc.
We describe a 3-year-old boy With complete agenesis of corpus callosum developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome. Subtelomeric FISH analysis revealed a paternally-derived t(9; 16) (q34.3;q24.3) translocation with partial 9q monosomy and partial 16q trisomy. As some facial features resemble the 9q emerging phenotype, We suggest the hypothesis that some patients with Donnai-Barrow syndrome might be abscribed to 9q terminal deletion. (c) 2006 Wiley-Liss, Inc.