Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies
Autore:
Venugopalan, P; Kenue, RK;
Indirizzi:
Sultan Qaboos Univ, Dept Child Hlth, Muscat, Oman Sultan Qaboos Univ Muscat Oman boos Univ, Dept Child Hlth, Muscat, Oman
Titolo Testata:
SAUDI MEDICAL JOURNAL
fascicolo: 9, volume: 22, anno: 2001,
pagine: 800 - 803
SICI:
0379-5284(200109)22:9<800:RC1IAO>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUMOR-SUPPRESSOR GENE; ABNORMALITY;
Keywords:
ring chromosome 13; phenotype; karyotype; receding forehead; spasticity; ptosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
P. Venugopalan e R.K. Kenue, "Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies", SAUDI MED J, 22(9), 2001, pp. 800-803

Abstract

An Omani infant boy with severe physical and psychomotor retardation, racial dysmorphism, and anomalies of the cardiovascular and genito-urinary systems is described. The chromosomal analysis revealed a 46, XY, r (13) (p11;q34) karyotype. The cytogenetic basis of this rare abnormality is outlined and phenotypic features are compared with published reports.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 14:58:41