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Titolo:
Ring chromosome 22 and autism: Report and review
Autore:
MacLean, JE; Teshima, IE; Szatmari, P; Nowaczyk, MJM;
Indirizzi:
McMaster Univ, Med Ctr, Dept Pathol & Mol Med, Hamilton, ON L8S 4J9, Canada McMaster Univ Hamilton ON Canada L8S 4J9 ed, Hamilton, ON L8S 4J9, Canada Hmailton Hlth Sci Corp, Hamilton, ON, Canada Hmailton Hlth Sci Corp Hamilton ON Canada Sci Corp, Hamilton, ON, Canada Hosp Sick Children, Dept Pediat Lab Med, Div Clin Genet, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada Univ Toronto, Toronto, ON, Canada Univ Toronto Toronto ON CanadaUniv Toronto, Toronto, ON, Canada McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON, Canada McMaster Univ Hamilton ON Canada & Behav Neurosci, Hamilton, ON, Canada McMaster Univ, Dept Pediat, Hamilton, ON, Canada McMaster Univ Hamilton ON Canada Univ, Dept Pediat, Hamilton, ON, Canada
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 5, volume: 90, anno: 2000,
pagine: 382 - 385
SICI:
0148-7299(20000228)90:5<382:RC2AAR>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
PERVASIVE DEVELOPMENTAL DISORDERS; PHENOTYPIC CORRELATIONS; PATIENT; NEUROFIBROMATOSIS; MENINGIOMAS; KARYOTYPE; TWINS;
Keywords:
ring chromosome 22; 2-3 toe syndactyly; autism;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Nowaczyk, MJM McMaster Univ, Med Ctr, Dept Pathol & Mol Med, Room 3N16,1200 Main St W, Hamilton, ON L8S 4J9, Canada McMaster Univ Room 3N16,1200 MainSt W Hamilton ON Canada L8S 4J9
Citazione:
J.E. MacLean et al., "Ring chromosome 22 and autism: Report and review", AM J MED G, 90(5), 2000, pp. 382-385

Abstract

Ring chromosome 22 has been described in over 50 cases. A characteristic phenotype has not been fully delineated; however, long face, thick eyebrows,2-3 toe syndactyly, mental retardation, adequate somatic growth and the absence of major malformations are noted in many cases. An 11-year-old boy with ring chromosome 22 and 46,XY,r(22)(p11.31-q13.31-q13.33) karyotype presented with global developmental delay, autistic disorder, and dolichocephaly, apparently low-set and large ears, midface hypoplasia, and 2-3 toe syndactyly. This is the second report of a ring chromosome 22 with autistic disorder. There appears to be an association between abnormalities of chromosome22, including r(22), and autistic disorder; however, this occurrence may be a result of the association of autistic disorder with mental retardation rather than specifically due to r(22). The physical findings in this case also suggest that ring chromosome 22 causes a subtle but distinct phenotype which has previously been proposed. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/07/20 alle ore 13:36:55