Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter.
Indian J Hum Genet
;
2014 Jan-Mar ;20 (1): 85-88
Artigo
em Inglês
| IMSEAR
| ID: sea-156641
ABSTRACT
Rearrangements between homologous chromosomes are extremely rare and manifest mainly as monosomic or trisomic offsprings. There are remarkably few reports of balanced homologous chromosomal translocation t (22q; 22q) and only two cases of transmission of this balanced homohologous rearrangement from mother to normal daughter are reported. Robersonian translocation carriers in non‑homologous chromosomes have the ability to have an unaffected child. However, it is not possible to have an unaffected child in cases with Robersonian translocations in homologous chromosomes. Carriers of homologous chromosome 22 translocations with maternal uniparental disomy do not have any impact on their phenotype. We are presenting a family with a history of multiple first trimester miscarriages and an unexpected inheritance of balanced homologous translocation of chromosome 22 with paternal uniparental disomy. There are no data available regarding the impact of paternal UPD 22 on the phenotype. We claim this to be the first report explaining that paternal UPD 22 does not impact the phenotype.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Fenótipo
/
Translocação Genética
/
Cromossomos Humanos Par 22
/
Feminino
/
Humanos
/
Masculino
/
Criança
/
Cromossomos Humanos 21-22 e Y
/
Adulto
/
Dissomia Uniparental
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2014
Tipo de documento:
Artigo
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