Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities
Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities
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DOI：
10.1159/000381293
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发表时间：
2015-01-01
影响因子：
1.7
通讯作者：
Butler, Merlin G.
中科院分区：
文献类型：
--
作者：
Cox, Devin M.;Butler, Merlin G.
我们报告一位36岁的白人男性，经微阵列及FISH分析发现其染色体易位不平衡，导致远端部分15 q三体及部分16 p单体。他有发育迟缓和智力残疾、慢性贫血、身材高大、胸椎侧凸和腰椎前凸以及畸形特征的病史。远端部分三体15 q包括与生长有关的胰岛素样生长因子1受体基因，而远端部分单体16 p区域的基因与α血红蛋白产生、智力残疾、畸形特征和肢端肥大症有关。在我们的病人身上发现的染色体衍生物含有已知在他的表型中起作用的基因。(C)2015 S. Karger AG，巴塞尔。
We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly. The chromosome derivative found in our patient contains genes known to play a role in his phenotype. (C) 2015 S. Karger AG, Basel.