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Titolo:
INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-6 ASSOCIATED WITHUNUSUAL LIMB ANOMALIES - REPORT OF 2 NEW PATIENTS AND REVIEW OF THE LITERATURE
Autore:
PANDYA A; BRAVERMAN N; PYERITZ RE; YING KL; KLINE AD; FALK RE;
Indirizzi:
VIRGINIA COMMONWEALTH UNIV,MED COLL VIRGINIA,DEPT HUMAN GENET,POB 980033 RICHMOND VA 23298 CHILDRENS HOSP LOS ANGELES,DIV MED GENET LOS ANGELES CA 90027 JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT BALTIMORE MD 21205 ALLEGHENY SINGER RES INST,DEPT HUMAN GENET PITTSBURGH PA 15212 MAINE MED CTR,DEPT PEDIAT PORTLAND ME 00000 PEDIAT ASSOC PORTLAND ME 00000
Titolo Testata:
American journal of medical genetics
fascicolo: 1, volume: 59, anno: 1995,
pagine: 38 - 43
SICI:
0148-7299(1995)59:1<38:IDOTLA>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
DISTAL DELETION; PORTION; TRANSLOCATION; BOY;
Keywords:
INTERSTITIAL DELETION 6Q2; LIMB MALFORMATION; SPLIT-HAND; POLYDACTYLY; RECOGNIZABLE PHENOTYPE;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
A. Pandya et al., "INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-6 ASSOCIATED WITHUNUSUAL LIMB ANOMALIES - REPORT OF 2 NEW PATIENTS AND REVIEW OF THE LITERATURE", American journal of medical genetics, 59(1), 1995, pp. 38-43

Abstract

We report on unusual manifestations in 2 unrelated children with interstitial deletion of 6q, with nearly identical breakpoints of 6q16.2q23.1 and 6q16.3q22.3, Major findings include growth retardation, profound developmental delay, microcephaly, facial anomalies, sparse hair, congenital heart defects, and striking hand malformations. Discordant anomalies were duodenal atresia and hypoplastic genitalia in 1 child, Split-hand defect, polydactyly, gastrointestinal anomalies, and ectodermal dysplasia have not been described previously in children with 6q deletion, The presence of hand malformations in 2 children with similardeletion breakpoints strongly suggests that this is a candidate region for one or more genes involved in limb development, Comparison of the clinical findings of other patients with 6q2 deletion suggests a recognizable phenotype (C) 1995 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 07:29:48