Open AccessSmith-magenis syndrome: A rare case report
Author(s) -
Rupam Sinha,
Harshvardhan Jha,
Debarati Deb,
Mainak Datta
Publication year - 2022
Publication title -
journal of family medicine and primary care
Language(s) - Uncategorized
Resource type - Journals
eISSN - 2278-7135
pISSN - 2249-4863
DOI - 10.4103/jfmpc.jfmpc_1279_21
Subject(s) - medicine , genetic disorder , chromosome , genetic syndromes , genetics , gene , pediatrics , biology , disease
Smith-Magenis syndrome is a rare genetic disorder involving multiple body systems, along with mental retardation and sleep disturbances. It is attributed to micro deletion at 17p11.2 chromosome region encoding for RAI1 gene. This article presents a case report of a 7-year-old patient having this rare syndrome along with his genetic analysis.