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Ring chromosome 2 in a child with growth failure and few congenital abnormalities.
Am J Med Genet ; 7(3): 383-9, 1980.
Article em En | MEDLINE | ID: mdl-7468662
ABSTRACT
A ring chromosome 2 mosaic [46,XX/46,XX,r(2)(p25q37)] was found in a newborn female with severe intrauterine growth retardation (IUGR), postnatal growth failure, and a few minor abnormalities. Psychomotor development has been normal to 19 months old. A ring chromosome 2 is present in 77.8% of the nuclei examined and is not found in the parents or a sibling. G- and R-banding reveal the break points to be p25q37. The presence of a normal cell line indicates that the chromosome abnormality arose after conception.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas / Cromossomos Humanos 1-3 / Transtornos do Crescimento / Mosaicismo Limite: Female / Humans / Infant Idioma: En Ano de publicação: 1980 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas / Cromossomos Humanos 1-3 / Transtornos do Crescimento / Mosaicismo Limite: Female / Humans / Infant Idioma: En Ano de publicação: 1980 Tipo de documento: Article