Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Angelman syndrome: Mimicking conditions and phenotypes
Autore:
Williams, CA; Lossie, A; Driscoll, D;
Indirizzi:
Univ Florida, Div Genet, Gainesville, FL 32610 USA Univ Florida Gainesville FL USA 32610 iv Genet, Gainesville, FL 32610 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 101, anno: 2001,
pagine: 59 - 64
SICI:
0148-7299(20010601)101:1<59:ASMCAP>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
MILD MENTAL-RETARDATION; LENNOX-GASTAUT-SYNDROME; RETT-SYNDROME; MOLECULAR CHARACTERIZATION; INTERSTITIAL DELETION; CLINICAL-FEATURES; PRADER-WILLI; ATR-X; MUTATION; AUTISM;
Keywords:
Angelman syndrome; mimicking conditions; phenotype; diagnosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Williams, CA Univ Florida, Div Genet, Gainesville, FL 32610 USA Univ Florida Gainesville FL USA 32610 nesville, FL 32610 USA
Citazione:
C.A. Williams et al., "Angelman syndrome: Mimicking conditions and phenotypes", AM J MED G, 101(1), 2001, pp. 59-64

Abstract

The diagnosis of Angelman syndrome (AS) can be confirmed by genetic laboratory in about 80% of cases. In 20%, the diagnosis remains clinical, but often there is uncertainty about the correctness of the clinical diagnosis andalternative diagnosis may be investigated. In evaluating individuals for AS in our center since 1989, we have encountered several mimicking conditions, and additional ones have been reported in the literature. Mimicking conditions can be grouped into the areas of chromosome, single gene, and symptom complex anomalies. Microdeletions or microduplications include chromosomeregions 2,4,17, 22, and 15, Single gene conditions include methylene tetrahydrofolate reductase deficiency (MTHFR), Rett syndrome, alpha-thalassemia retardation syndrome (ATR-X), and Gurrieri syndrome. Symptom complexes include cerebral palsy, static encephalopathy, Lennox-Gastaut syndrome, autism spectrum disorder, pervasive developmental delay (PDD), and mitochondrial disorders. We present a review of these mimicking disorders to increase the awareness about conditions that can lead to an incorrect clinical diagnosisof AS. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/01/20 alle ore 18:53:39