Replication error, a new hypothesis to explain the origin of a supernumerary marker chromosome in a mentally retarded boy.
Hereditas
; 111(2): 115-23, 1989.
Article
em En
| MEDLINE
| ID: mdl-2625404
ABSTRACT
A marker chromosome present in all the lymphocytes of a mentally retarded boy (47,XY,+mar) was identified. The karyotype of all fibroblasts was normal, 46,XY. His parents had normal karyotypes. The supernumerary marker chromosome was interpreted as a dicentric palindromic chromosome iso(9) (pter----q12, q12----pter). The marker chromosome may have originated through a ligation error in a replication fork during the S-phase followed by a new replication (endoreduplication).
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 9
/
Aberrações Cromossômicas
/
Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Hereditas
Ano de publicação:
1989
Tipo de documento:
Article