RESUMO
We present de novo diagnosed case of partial trisomy of short arm of chromosome 8 with psyhomotoric delay and microanomalies. Inverted duplication of short arm of chromosome 8 was identified using molecular-cytogenetic method. This case is compared with literature data on the same cases. The further intensive study of such cases is necessary to delineate this chromosomal syndrome
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 8/genética , Deficiências do Desenvolvimento/genética , Trissomia/genética , Encéfalo/anormalidades , Pré-Escolar , Bandeamento Cromossômico , Humanos , Cariotipagem , Imageamento por Ressonância Magnética , MasculinoRESUMO
The literature about the nature of marker chromosomes (mini-chromosomes of unknown origin) in patients with mental retardation, hereditary defects of development as well as in healthy individuals is reviewed. The advantage of the use of modern molecular methods of research for the analysis of nature and origin of additional mini-chromosomes is demonstrated.
Assuntos
Aberrações Cromossômicas/genética , Anormalidades Múltiplas/genética , Transtornos Cromossômicos , Sondas de DNA , Marcadores Genéticos/genética , Humanos , Deficiência Intelectual/genéticaRESUMO
Three unusual cases of Down's syndrome inheritance are presented which permit supposing that microstructural chromosome aberrations in parents may induce not only a structural imbalance of chromosomal material in progeny, but also a numerical imbalance.