Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype

Título traducido de la contribución: Trisomía doble (Kariotipo XXX+21) en una niña de 6 años con fenotipo Down

Resultado de la investigación: Contribución a RevistaArtículo

1 Cita (Scopus)

Resumen

Describimos el caso de una niña de seis años que presenta múltiples rasgos dismórficos característicos del síndrome de Down.
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 originalEnglish (US)
Páginas (desde-hasta)337-340
Número de páginas4
PublicaciónJournal of Genetics
Volumen97
N.º2
DOI
EstadoPublished - mar 19 2018

All Science Journal Classification (ASJC) codes

  • Genetics

Citar esto

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title = "Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype",
abstract = "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).",
author = "{Daniela Vergara-Mendez}, Laura and Claudia Talero-Gutierrez and Alberto Velez-Van-Meerbeke",
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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 RevistaArtículo

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

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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).

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