Resumen
Tiene un retraso general en el desarrollo significativo, con una puntuación que corresponde a 32 meses de edad de desarrollo. Este retraso es
especialmente en el lenguaje, con un vocabulario muy escaso. Se comunica con algunas palabras de signos de la mano o señalando con el dedo, aunque sus
respuestas auditivas en la prueba de audición fueron normales. Dos estudios previos de cariotipo mostraron 48, XXX, +21 anomalías. Esta trisomía doble es una
enfermedad rara descrita en casos aislados en la literatura y ninguna de ellas se refiere a los aspectos de desarrollo de estos niños
(Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963).
Idioma original | English (US) |
---|---|
Páginas (desde-hasta) | 337-340 |
Número de páginas | 4 |
Publicación | Journal of Genetics |
Volumen | 97 |
N.º | 2 |
DOI | |
Estado | Published - mar 19 2018 |
All Science Journal Classification (ASJC) codes
- Genetics
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Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype. / Daniela Vergara-Mendez, Laura; Talero-Gutierrez, Claudia; Velez-Van-Meerbeke, Alberto.
En: Journal of Genetics, Vol. 97, N.º 2, 19.03.2018, p. 337-340.Resultado de la investigación: Contribución a Revista › Artículo
TY - JOUR
T1 - Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype
AU - Daniela Vergara-Mendez, Laura
AU - Talero-Gutierrez, Claudia
AU - Velez-Van-Meerbeke, Alberto
PY - 2018/3/19
Y1 - 2018/3/19
N2 - We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down’s syndrome.She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay isespecially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditoryresponses in hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 anomalies. This double trisomy is arare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children(Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963).
AB - We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down’s syndrome.She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay isespecially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditoryresponses in hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 anomalies. This double trisomy is arare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children(Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963).
UR - http://www.scopus.com/inward/record.url?scp=85044066279&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85044066279&partnerID=8YFLogxK
U2 - 10.1007/s12041-018-0952-6
DO - 10.1007/s12041-018-0952-6
M3 - Article
C2 - 29666354
VL - 97
SP - 337
EP - 340
JO - Journal of Genetics
JF - Journal of Genetics
SN - 0022-1333
IS - 2
ER -