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Titolo:
INCIDENCE AND SIGNIFICANCE OF 22Q11.2 HEMIZYGOSITY IN PATIENTS WITH INTERRUPTED AORTIC-ARCH
Autore:
RAUCH A; HOFBECK M; LEIPOLD G; KLINGE J; TRAUTMANN U; KIRSCH M; SINGER H; PFEIFFER RA;
Indirizzi:
UNIV ERLANGEN NURNBERG,INST HUMAN GENET,SCHWABACHANLAGE 10 D-91054 ERLANGEN GERMANY UNIV ERLANGEN NURNBERG,DEPT PEDIAT CARDIOL D-91054 ERLANGEN GERMANY
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 78, anno: 1998,
pagine: 322 - 331
SICI:
0148-7299(1998)78:4<322:IASO2H>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOMAL REGION 22Q11; CONGENITAL HEART-DISEASE; CARDIO-FACIAL SYNDROME; DIGEORGE-SYNDROME; NOONAN-SYNDROME; NEURAL CREST; DELETIONS; MICRODELETIONS; MALFORMATIONS; COARCTATION;
Keywords:
22Q11 DELETION; INTERRUPTED AORTIC ARCH; DIGEORGE SYNDROME; SIBS; CONGENITAL HEART DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
63
Recensione:
Indirizzi per estratti:
Citazione:
A. Rauch et al., "INCIDENCE AND SIGNIFICANCE OF 22Q11.2 HEMIZYGOSITY IN PATIENTS WITH INTERRUPTED AORTIC-ARCH", American journal of medical genetics, 78(4), 1998, pp. 322-331

Abstract

Interruption of the aortic arch (IAA) is a severe malformation of theheart with known association to DiGeorge syndrome (DGS) and 22911.2 hemizygosity, The aim of this study was to establish incidence and significance of 22q11,2 hemizygosity in an unbiased sample of patients with IAA. All 15 children with IAA who were referred to our hospital in a3-year period were tested by chromosome and fluorescence in situ hybridization (FISH) analysis with the probes D22S75, Tuple1, and cHKAD26 and by a set of 10 simple tandem repeat polymorphic (STRP) markers, Innine of 11 children with IAA type B, 22q11.2 hemizygosity was demonstrated by FISH and STRP analysis, but in none of the four children withtype A. In all but one child, deletion size was similar to 3 Mb, The girl with the smaller deletion of similar to 1.5 Mb differed because of an Ullrich-Turner syndrome-like phenotype and severe T-cell defect. Additionally, in one patient with phenotypic signs of DGS, a small deletion distal to the known DGS region containing the marker D22S308 wassuspected by STRP analysis. One deletion was shown to be inherited from a healthy father and one IAA type A recurred in a sib. T-cell anomalies were evident in eight of the nine children with classical deletion, five of whom suffered also from hypoparathyroidism, With respect tocause and clinical course, IAA type A and B were shown to represent different entities, This study showed that variable symptoms of 22q11.2hemizygosity may cluster, (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 09:08:07