De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).
Am J Med Genet
; 36(3): 316-20, 1990 Jul.
Article
em En
| MEDLINE
| ID: mdl-2363431
ABSTRACT
We report on a 6-year-old boy with moderate developmental retardation and unusual dermatoglyphics. Cytogenetic analysis demonstrated a duplication of chromosome sub-region 7p21.2-p14.2. Confirmation of the specific duplicated region was determined by quantitative Southern blotting by using a DNA fragment previously localized to the portion of chromosome 7 thought to be duplicated. This patient did not have the internal malformations seen with other dup(7p) patients.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 7
/
Aberrações Cromossômicas
/
Dermatoglifia
/
Deficiência Intelectual
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1990
Tipo de documento:
Article
País de afiliação:
Polônia