Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.
Am J Med Genet
; 111(1): 19-26, 2002 Jul 22.
Article
em En
| MEDLINE
| ID: mdl-12124728
ABSTRACT
A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos em Anel
/
Trissomia
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 5
/
Transtornos Cromossômicos
/
Deficiência Intelectual
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article