Smith-Magenis Syndrome: Clues in the Clinic

被引：3

作者：

Akkus, Nejmiye ^{[1
]}

Kilic, Betul ^{[2
]}

Cubuk, Pelin Ozyavuz ^{[3
]}

机构：

[1] Hlth Sci Univ, Derince Training & Res Hosp, Dept Med Genet, TR-41900 Kocaeli, Turkey

[2] Medipol Univ Hosp, Dept Pediat Neurol, Istanbul, Turkey

[3] Minist Hlth, Haseki Educ Res Hosp, Dept Med Genet, Istanbul, Turkey

来源：

JOURNAL OF PEDIATRIC GENETICS | 2020年 / 09卷 / 04期

关键词：

Smith-Magenis syndrome; chromosome; 17p11; 2; deletion; sleep disturbance; 17P11.2; DELETIONS;

D O I：

10.1055/s-0039-1700965

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for the retinoic acid-induced 1 (RAI1) gene. In this article, we present three cases, who were diagnosed with SMS with mental retardation and behavioral problems such as self-hugging and sleeping disturbances. During the evaluation of the patients, it has been found that there was a 3.4-Mb deletion in the 17p11.2 chromosome region of these patients. This deletion includesRAI1that is a critically involved gene in SMS.

引用

页码：279 / 284

页数：6

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