WebMar 24, 2003 · Abstract. Smith–Magenis syndrome (SMS) is a mental retardation syndrome associated with deletions involving chromosome 17p11.2. Persons with SMS have characteristic behavioral abnormalities ... WebSmith-Magenis syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, …
Microdeletion syndromes (chromosomes 12 to 22) - UpToDate
WebSmith-Magenis syndrome. Researchers believe that a partial or total loss of function of the RAI1 gene accounts for most of the signs and symptoms of Smith-Magenis syndrome. … WebRefSeq Summary (NM_030665): This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. ... GeneReviews: Model Information: Methods: Data last updated at UCSC: 2013-06-14: Sequence and Links to Tools and Databases ... elasticsearch date query
Smith-Magenisin oireyhtymä Tukiliitto
WebJul 10, 2013 · 1. Introduction. Smith-Magenis syndrome (SMS) is a rare developmental disorder featuring impaired intellectual and behavioral abnormalities. SMS is still not well known because it is characterized by subtle facial dysmorphology that progresses with age, and clinical features that overlap with other intellectual disability syndromes as … WebIn about two-thirds of affected individuals, the duplicated segment includes approximately 3.7 million DNA building blocks (base pairs), also written as 3.7 megabases (Mb). (A deletion of this segment causes a related condition called Smith-Magenis syndrome.) In the remaining one-third of cases, the duplication is larger or smaller, ranging ... WebSep 15, 1993 · We describe an infant with del(17) (p11.2p12) whose deleted chromosome was inherited from a mosaic mother. The child had manifestations consistent with Smith-Magenis syndrome. The mother appeared to be of normal intelligence and she had minimal findings of Smith-Magenis syndrome. Separation of chrom … elasticsearch dbapi