Relación fenotipo-cariotipo en un individuo con deleción intersticial del brazo largo del cromosoma 2 / Annual Reports 1991 / Phenotype-karyotype relationship in an individual with intersticial deletion of the long arn of chromosome 2
Asunción; EFACIM; dic; 1991. 25-30 p. tab.
Monography
em Es
| LILACS, BDNPAR
| ID: biblio-1017995
Biblioteca responsável:
PY2.1
Localização: PY3. 1 SR 616.9363 An78a 1991
ABSTRACT
It is reported the case of a child of 9 months of age, who at the time of born, displayed multiple malformations and extensive hypotonia. The cytogenetical analysis revealed a intersticial deletion of the long arm of chromosome 2, karyotype 46, XY, del(2)(q31,q33). The abnormality was detected by performing chromosomal studies on peripheral blood, with conventional staining techniques. In order to associate the phenotype of the patient with others reported previously, an extensive bibliographic search was performed
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Coleções:
01-internacional
Base de dados:
BDNPAR
/
LILACS
Assunto principal:
Fenótipo
Idioma:
Es
Ano de publicação:
1991
Tipo de documento:
Monography
País de publicação:
Paraguai