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 Es
| LILACS
| ID: lil-599276
Responsible library:
CO56.1
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.
Key words
Full text:
1
Index:
LILACS
Main subject:
X Chromosome
/
XYY Karyotype
/
Down Syndrome
/
Klinefelter Syndrome
/
Aneuploidy
/
Intellectual Disability
Limits:
Child
Country/Region as subject:
America do sul
/
Colombia
Language:
Es
Journal:
Iatreia
Journal subject:
MEDICINA
Year:
2011
Type:
Article