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
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
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.