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FISH for Angelman syndrome


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A genetic syndrome characterized by severe motor and mental retardation, microcephaly, ataxia, jerky limb movements such as hand flapping, hyperactivity, seizures, absence of speech, frequent smiling and outbursts of laughter, and unusual facial features, characterized by a large mouth and jaw, an open-mouthed expression, with a great propensity for protruding the tongue.

Angelman syndrome in most cases is due to a chromosome deletion involving loss of material from chromosome region 15q11-q13. The loss is consistently from the mother's contribution of chromosome region 15q11-q13 and is due to a new deletion in most cases.

Deletion of chromosome region 15q11-q13 causes both Angelman syndrome and a separate disorder called Prader-Willi syndrome. However, while the deleted chromosome is of maternal origin in Angelman syndrome, it is the paternal chromosome that is partially deleted in Prader-Willi syndrome.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code: Q93.5

Test Requisition: Cytogenetics Requisition

Turn-around-time: 7-10 days

Specimen Requirements

Shipping Information

References

1. Lossie A, Driscoll D (1999). "Transmission of Angelman syndrome by an affected mother". Genet Med 1 (6): 262–6.

2. Williams CA, Angelman H, Clayton-Smith J et al. (1995). "Angelman syndrome: consensus for diagnostic criteria. Angelman syndrome Foundation". Am. J. Med. Genet. 56 (2): 237–8.

3. Buntinx IM, Hennekam RC, Brouwer OF et al. (March 1995). "Clinical profile of Angelman syndrome at different ages". American Journal of Medical Genetics 56 (2): 176–83.

 



 

 



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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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