A case of mosaic Down's syndrome with two Robertsonian translocations.
Rev Invest Clin
; 48(5): 385-8, 1996.
Article
em En
| MEDLINE
| ID: mdl-8968157
A baby with stigmata of Down's syndrome was found to be a mosaic with two different cell lines: 45,XX,der(14q;21q)/46,XX,der(21q;21q)+21. The chromosome rearrangements appeared to have risen de novo. Four mechanisms are discussed for the origin of the mosaicism: dissociation of a translocation (14q;21q) chromosome already present in the 45,XX, der(14q;21q) zygote; two translocation events occurring sequentially at the first and second zygote (46,XX) divisions; a chromatid translocation in a 47,XX,+21 zygote; and an independent origin of the two cell lines.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Cromossomos Humanos Par 14
/
Cromossomos Humanos Par 21
/
Síndrome de Down
/
Mosaicismo
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Rev Invest Clin
Assunto da revista:
MEDICINA
Ano de publicação:
1996
Tipo de documento:
Article
País de publicação:
México