Document Detail


Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
MedLine Citation:
PMID:  8929945     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report the clinical features in 27 Australasian patients with Angelman syndrome (AS), all with a DNA deletion involving chromosome 15(q11-13), spanning markers from D15S9 to D15S12, about 3 center dot 5 Mb of DNA. There were nine males and 18 females. All cases were sporadic. The mean age at last review (end of 1994) was 11 center dot 2 years (range 3 to 34 years). All patients were ataxic, severely retarded, and lacking recognisable speech. In all patients, head circumference (HC) at birth was normal but skewed in distribution, with 62 center dot 5% at the 10th centile. At last review HC was around the 50th centile in three patients (12 center dot 5%) while 15 had poor postnatal head growth. Short stature was not invariable, 5/26 (19%) were on or above the 50th centile. Hypotonia at birth was recorded in 15/24 (63%) and neonatal feeding difficulties were recorded in 20/26 (77%). Epilepsy was present in 26/27 (96%) with onset by the third year of life in 20 patients (83%). Improvement in epilepsy was reported in 11/16 patients (69%) with age. An abnormal EEG was reported in 25/25 patients. Hypopigmentation was present in 19/26 (73%). One patient had oculocutaneous albinism. Five patients could not walk independently. Of the remaining 22 who could walk, age of onset of walking ranged from 2 to 8 years. Disrupted sleep patterns were present in 18/21 patients (86%), with improvement in 9/12 patients (75%) over 10 years of age. The clinical features in this group of deletional AS patients were similar to previous reports, but these have not separated patients into subgroups based on DNA studies. In our group of deletional cases, 100% showed severe mental retardation, ataxic movements, absent language, abnormal EEG, happy disposition (noted in infancy in 95%), normal birth weight and head circumference at birth, and a large, wide mouth. These features occurred with a higher frequency than in AS patients as a whole. Our study also provided information on the evolution of the phenotype. The data can act as a benchmark for comparisons of AS resulting from other genetic mechanisms.
Authors:
A Smith; C Wiles; E Haan; J McGill; G Wallace; J Dixon; R Selby; A Colley; R Marks; R J Trent
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Journal of medical genetics     Volume:  33     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1996 Feb 
Date Detail:
Created Date:  1997-05-12     Completed Date:  1997-05-12     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  107-12     Citation Subset:  IM    
Affiliation:
Department of Genetics, Children's Hospital, Sydney, Australia.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Angelman Syndrome / epidemiology,  genetics,  pathology*
Anthropometry
Ataxia / epidemiology,  genetics
Australia / epidemiology
Child
Child, Preschool
Chromosome Aberrations / epidemiology,  genetics,  pathology*
Chromosome Deletion*
Chromosome Disorders
Chromosomes, Human, Pair 15 / genetics*,  ultrastructure
DNA Mutational Analysis
Dwarfism / epidemiology,  genetics
Epilepsy / epidemiology,  genetics
Female
Genetic Markers
Humans
Incidence
Male
Mental Retardation / epidemiology,  genetics
Microcephaly / epidemiology,  genetics
New Zealand / epidemiology
Phenotype
Pigmentation Disorders / epidemiology,  genetics
Pregnancy
Pregnancy Outcome
Psychomotor Disorders / epidemiology,  genetics
Sequence Deletion*
Severity of Illness Index
Sleep Disorders / epidemiology,  genetics
Chemical
Reg. No./Substance:
0/Genetic Markers
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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