Doble aneuploidía en un niño colombiano: síndrome de Down-Klinefelter, con fenotipo de síndrome de Down / Double aneuploidy in a Colombian child: Down-Klinefelter syndrome with Down syndrome phenotype
Iatreia
;
24(1): 87-89, mar.-mayo 2011. ilus
Article
in Spanish
| LILACS
| ID: lil-599276
RESUMEN
La ocurrencia de una doble aneuploidía en una misma persona es un evento relativamente raro. Se presenta el caso de un niño de siete meses de edad, de padres no consanguíneos con características clínicas de síndrome de Down y cariotipo 48XXY.
ABSTRACT
The occurrence of double aneuploidy in one person is a relatively rare phenomenon. We report the case of a 7-month-old child, the third-born of non-consanguineous parents, with clinical features of Down syndrome and karyotype 48XXY.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
X Chromosome
/
XYY Karyotype
/
Down Syndrome
/
Klinefelter Syndrome
/
Aneuploidy
/
Intellectual Disability
Limits:
Child
Country/Region as subject:
South America
/
Colombia
Language:
Spanish
Journal:
Iatreia
Journal subject:
Medicine
Year:
2011
Type:
Article
Affiliation country:
Colombia
Institution/Affiliation country:
Clínica Neurocardiovascular/CO
/
Universidad Icesi/CO
/
Universidad del Valle/CO
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