Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review,Molecular Genetics & Genomic Medicine

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Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-07-22 , DOI: 10.1002/mgg3.1750
Jing Liu _{1,

2} , Qin Liu ₁ , Shuting Yang ₁ , Na Ma ₁ , Jialun Pang ₁ , Ying Peng _{1,

2} , Hui Xi _{1,

2} , Zhengjun Jia ₁ , Yingchun Luo _{1,

2} , Meiping Jiang ₁ , Yanling Teng ₃ , Wenxian Yu ₁ , Zhuo Li ₄ , Hua Wang _{1,

2}

Affiliation

Simpson–Golabi–Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by pre- and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally.

中文翻译：

Simpson-Golabi-Behmel 综合征的产前病例，其 Xq26.2 包含部分 GPC3 基因的从头 370Kb 大小的微缺失和回顾

Simpson-Golabi-Behmel 综合征 1 型 (SGBS1) 是一种罕见的 X 连锁隐性疾病，其特征是产前和产后过度生长和广泛的异常，包括颅面畸形、心脏缺陷、肾脏和生殖器异常。由于超声检查结果不是该综合征的特征，大多数 SGBS1 的临床诊断是在出生后进行的。

更新日期：2021-08-30

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