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Titolo:
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)
Autore:
Gustavsson, P; Kimber, E; Wahlstrom, J; Anneren, G;
Indirizzi:
Uppsala Univ, Clin Genet Unit, Dept Genet & Pathol, Uppsala, Sweden Uppsala Univ Uppsala Sweden Unit, Dept Genet & Pathol, Uppsala, Sweden Univ Lund Hosp, Dept Pediat, S-22185 Lund, Sweden Univ Lund Hosp Lund Sweden S-22185 sp, Dept Pediat, S-22185 Lund, Sweden Univ Hosp Gothenburg, Dept Clin Genet, Gothenburg, Sweden Univ Hosp Gothenburg Gothenburg Sweden t Clin Genet, Gothenburg, Sweden
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 82, anno: 1999,
pagine: 348 - 351
SICI:
0148-7299(19990212)82:4<348:M1SAAR>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSLOCATION; PHENOTYPE;
Keywords:
chromosome 18; monosomy 18q; del(18)(q21.1q22.3); Rett syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Anneren, G Uppsala Univ, Childrens Hosp, Dept Clin Genet, S-75185 Uppsala,Sweden Uppsala Univ Uppsala Sweden S-75185 , S-75185 Uppsala, Sweden
Citazione:
P. Gustavsson et al., "Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)", AM J MED G, 82(4), 1999, pp. 348-351

Abstract

We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21,1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defined by molecular analysis with polymorphic markers as a de novo interstitial deletion, paternally derived. The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years. She did not have microcephaly, and the mental delay was obvious froman early age without a period of normal development, which makes the diagnosis of Rett syndrome atypical. Previously, a girl with mosaicism for a monosomy 18q associated with Rett syndrome has been described. That girl had aterminal deletion of chromosome 18q, which seems to coincide in part with that in the present girl. It is possible that genes in the distal region of18q are involved in the etiology of Rett syndrome. Am. J. Med. Genet, 82:348-351, 1999. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 06:46:58