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Reversed Clinical Phenotype Due To a Microduplication of Sotos Syndrome Region Detected by Array CGH: Microcephaly, Developmental Delay and Delayed Bone Age 期刊论文

编号：

6a7b17c9-6f8f-4c50-9354-546cc66ff24b
作者：

Zhang, Han(张涵)#^[1,2]Lu, Xianglan^[1];Beasley, Julie^[1];Mulvihill, John J.^[1];Liu, Ruizhi(刘睿智)^[2]Li, Shibo^[1];Lee, JiYun*^[1]
语种：

英文
期刊：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A ISSN：1552-4825 2011 年 155A 卷 6 期 (1374 - 1378) ; JUN
收录：
关键词：

Sotos syndrome 5q35 duplication NSD1 array CGH FISH
摘要：

Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal duplication of the 5q35.3 region, including the NSD1 gene, detected by array CGH. The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive. Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient. (C) 2011 Wiley-Liss, Inc.
推荐引用方式
GB/T 7714：

Zhang Han,Lu Xianglan,Beasley Julie, et al. Reversed Clinical Phenotype Due To a Microduplication of Sotos Syndrome Region Detected by Array CGH: Microcephaly, Developmental Delay and Delayed Bone Age [J].AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2011,155A(6):1374-1378.
APA：

Zhang Han,Lu Xianglan,Beasley Julie,Mulvihill John J.,&Lee Ji-Yun.(2011).Reversed Clinical Phenotype Due To a Microduplication of Sotos Syndrome Region Detected by Array CGH: Microcephaly, Developmental Delay and Delayed Bone Age .AMERICAN JOURNAL OF MEDICAL GENETICS PART A,155A(6):1374-1378.
MLA：

Zhang Han, et al. "Reversed Clinical Phenotype Due To a Microduplication of Sotos Syndrome Region Detected by Array CGH: Microcephaly, Developmental Delay and Delayed Bone Age" .AMERICAN JOURNAL OF MEDICAL GENETICS PART A 155A,6(2011):1374-1378.
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