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Titolo:
Inherited duplication of Xq27.2 -> qter: phenocopy of infantile Prader-Willi syndrome
Autore:
Lammer, EJ; Punglia, DR; Fuchs, AE; Rowe, AG; Cotter, PD;
Indirizzi:
Childrens Hosp, Div Med Genet, Oakland, CA 94609 USA Childrens Hosp Oakland CA USA 94609 Div Med Genet, Oakland, CA 94609 USA
Titolo Testata:
CLINICAL DYSMORPHOLOGY
fascicolo: 2, volume: 10, anno: 2001,
pagine: 141 - 144
SICI:
0962-8827(200104)10:2<141:IDOX-Q>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
X-CHROMOSOME;
Keywords:
fluorescence in situ hybridization; functional disomy; Prader-Willi syndrome; X chromosome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
7
Recensione:
Indirizzi per estratti:
Indirizzo: Lammer, EJ Childrens Hosp, Div Med Genet, 747 52nd St, Oakland, CA 94609 USA Childrens Hosp 747 52nd St Oakland CA USA 94609 d, CA 94609 USA
Citazione:
E.J. Lammer et al., "Inherited duplication of Xq27.2 -> qter: phenocopy of infantile Prader-Willi syndrome", CLIN DYSMOR, 10(2), 2001, pp. 141-144

Abstract

A male is described with familial duplication of the distal long arm of the X chromosome (Xq27.2 --> tqter) at the distal short arm (Xp22.3). The proband has features of the male Prada-Willi syndrome phenotype that have not previously been reported in other males with duplication of Xq27 --> qter.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 01:30:33