Smith-magenis syndrome: A rare case report

Smith-magenis syndrome: A rare case report

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 rar...

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Veröffentlicht in:Journal of family medicine and primary care 2022-03, Vol.11 (3), p.1191-1194
Hauptverfasser: Sinha, Rupam, Jha, Harshvardhan, Deb, Debarati, Datta, Mainak
Format: Artikel
Sprache:eng
Schlagworte:
17p11.2 chromosome
Analysis
Case Report
Diagnosis
genetic
mental retardation
rai1 gene
Sleep
Sleep disorders
sleep disturbances
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Beschreibung
Zusammenfassung: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.
ISSN:2249-4863
2278-7135
DOI:10.4103/jfmpc.jfmpc_1279_21