A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder
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A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum di...
متن کاملAutism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
BACKGROUND Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been identified in gene-linkage studies to be associated with autism spectrum disorder (ASD). Diagnosis of ASD in individuals with PMS is complicated by the presence of moderate to ...
متن کاملPhelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of K...
متن کاملThe 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).
The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or ...
متن کاملkleine-levin syndrome in an 8-year-old girl with autistic disorder: does autism account a primary or secondary cause?
how to cite this article: hakim shoushtari m, ghalebandi mf, tavasoli a, pourshams m. kleine-levin syndrome in an 8 year old girl with autistic disorder does autism account a primary or secondary cause? iran j child neurol. autumn 2015;9(4):61-64. abstract objective kleine–levin syndrome (kls) is a rare disorder with an unknown etiology. autism spectrum disorder is characterized by various degr...
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ژورنال
عنوان ژورنال: Balkan Journal of Medical Genetics
سال: 2016
ISSN: 1311-0160
DOI: 10.1515/bjmg-2016-0041