7q11.23 duplication syndrome

7q11.23 duplication syndrome (also called dup7 or Duplication of the Williams-Beuren Syndrome Critical Region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7.

7q11.23 duplication syndrome
Other namesdup7

This syndrome is characterized by a wide spectrum of neurological, behavior and other medical problems which may appear in different levels of severity. Common characteristics are speech and sound disorder (CAS - childhood apraxia of speech, dysarthria), delayed development, delayed motor development and clumsiness, anxiety (especially on social conditions), selective mutism (in 20% of the subjects), ADHD, oppositional disorder, ASD (in 20%), intellectual disability in 18%, cardio-vascular disease (dilation of the ascending aorta in 46%), seizures in 19%, neurological abnormalities (hypotonia, adventitious movements).[1] hydrocephalus in 5.6%,[2] chronic constipation. The syndrome was first reported in 2005 [3]

Signs and symptoms
  1. Eyes issues - high strength glasses, strabismus
  2. Hypospadias
  3. Hypermobility
  4. Hypertonia
  5. Hearing loss

Diagnosis

A medical examination is recommended for newly diagnosed including echocardiogram for detection of heart defects (mainly aorta dilation), kidneys ultrasound, consider brain MRI.[1][4]

Treatment

Intensive speech/language therapy was found to be important for maximizing long-term outcomes.[5]

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References
  1. Mervis, Carolyn B.; Morris, Colleen A.; Klein-Tasman, Bonita P.; Velleman, Shelley L.; Osborne, Lucy R. (2015), "7q11.23 Duplication Syndrome", GeneReviews, University of Washington, Seattle, PMID 26610320, retrieved 2019-05-26
  2. Morris, Colleen A.; Mervis, Carolyn B.; Paciorkowski, Alex P.; et al. (December 2015). "7q11.23 Duplication Syndrome: Physical Characteristics and Natural History". American Journal of Medical Genetics. Part A. 167A (12): 2916–2935. doi:10.1002/ajmg.a.37340. ISSN 1552-4825. PMC 5005957. PMID 26333794.
  3. Somerville, Martin J.; Mervis, Carolyn B.; Young, Edwin J.; Seo, Eul-Ju; del Campo, Miguel; Bamforth, Stephen; Peregrine, Ella; Loo, Wayne; Lilley, Margaret (2005-10-20). "Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus". New England Journal of Medicine. 353 (16): 1694–1701. doi:10.1056/NEJMoa051962. ISSN 0028-4793. PMC 2893213. PMID 16236740.
  4. Parrott Ashley; et al. "Aortopathy in the 7q11. 23 microduplication syndrome" (PDF). American Journal of Medical Genetics Part A. 167 (2).
  5. Velleman, Shelley L.; Mervis, Carolyn B. (2011-10-01). "Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention". Perspectives on Language Learning and Education. 18 (3): 108–116. doi:10.1044/lle18.3.108. ISSN 1940-7742. PMC 3383616. PMID 22754604.
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