Uniparental disomy resulting from heterozygous Robertsonian translocation [13q14q] in both parents
JRMS-Journal of Research in Medical Sciences. 2007; 12 (2): 100-103
em Inglês
| IMEMR
| ID: emr-135164
ABSTRACT
Uniparental disomy [UPD] is a situation in which both members of a chromosome pair are inherited from one parent. This study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. The parents were first cousins and they both had Robertsonian translocation between their long arm of chromosome 13 and 14 [45, XY t [13q14q]]. Their affected son had a similar karyotype. Their daughter's karyotype revealed the presence of a homozygous Robertsonian 13/14 translocation 44, XX t [13q14], t [13q14q]. According to the clinical findings it is possible to conclude that the affected boy suffers from UPD
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Pais
/
Translocação Genética
/
Cromossomos Humanos Par 13
/
Cromossomos Humanos Par 14
/
Consanguinidade
/
Cariotipagem
/
Deficiência Intelectual
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
J. Res. Med. Sci.
Ano de publicação:
2007
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