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

Laura Daniela Vergara-Mendez; Claudia Talero-Gutiérrez; Alberto Velez-Van-Meerbeke

doi:10.1007/s12041-018-0952-6

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

Título traducido de la contribución: Erratum a: Trisomía doble (XXX+21 cariotipo) en una niña de seis años con fenotipo caído (Journal of Genetics, (2018), 97, 1, (337-340), 10.1007/s12041-018-0916-x)

Laura Daniela Vergara-Mendez, Claudia Talero-Gutiérrez, Alberto Velez-Van-Meerbeke

Producción científica: Contribución a una revista › Comentario/Debate › revisión exhaustiva

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 idioma, con un vocabulario muy escaso. Ella se comunica con algunas palabras de signos de mano o señalando, aunque su auditiva
respuestas 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).

Título traducido de la contribución	Erratum a: Trisomía doble (XXX+21 cariotipo) en una niña de seis años con fenotipo caído (Journal of Genetics, (2018), 97, 1, (337-340), 10.1007/s12041-018-0916-x)
Idioma original	Inglés estadounidense
Número de páginas	1
Publicación	Journal of Genetics
Volumen	97
N.º	2
DOI	https://doi.org/10.1007/s12041-018-0952-6
Estado	Publicada - jun. 1 2018

Áreas temáticas de ASJC Scopus

Genética

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title = "Erratum to: Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype",

abstract = "We describe the case of a six-year-old girl with multiple dysmorphic features characteristic of Down syndrome.She has a significant overall developmental delay, with a score corresponding to 32 months of developmental age. This delay isespecially in the language, with a very scarce vocabulary. She communicates with some hand signs or pointing words, although her auditoryresponses in the hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 abnormalities. This double trisomy is arare disease described in isolated cases in the literature and none of them 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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AU - Vergara-Mendez, Laura Daniela

AU - Talero-Gutiérrez, Claudia

AU - Velez-Van-Meerbeke, Alberto

PY - 2018/6/1

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N2 - We describe the case of a six-year-old girl with multiple dysmorphic features characteristic of Down syndrome.She has a significant overall developmental delay, with a score corresponding to 32 months of developmental age. This delay isespecially in the language, with a very scarce vocabulary. She communicates with some hand signs or pointing words, although her auditoryresponses in the hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 abnormalities. This double trisomy is arare disease described in isolated cases in the literature and none of them 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 the case of a six-year-old girl with multiple dysmorphic features characteristic of Down syndrome.She has a significant overall developmental delay, with a score corresponding to 32 months of developmental age. This delay isespecially in the language, with a very scarce vocabulary. She communicates with some hand signs or pointing words, although her auditoryresponses in the hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 abnormalities. This double trisomy is arare disease described in isolated cases in the literature and none of them 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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Erratum to: Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype

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