Erratum to

Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype (Journal of Genetics, (2018), 97, 1, (337-340), 10.1007/s12041-018-0916-x)

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)

Resultado de la investigación: Contribución a RevistaComentario / debate

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).
Idioma originalEnglish (US)
Número de páginas1
PublicaciónJournal of Genetics
Volumen97
N.º2
DOI
EstadoPublished - jun 1 2018

All Science Journal Classification (ASJC) codes

  • Genetics

Citar esto

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title = "Erratum to: Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype (Journal of Genetics, (2018), 97, 1, (337-340), 10.1007/s12041-018-0916-x)",
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)..",
author = "Vergara-Mendez, {Laura Daniela} and Claudia Talero-Guti{\'e}rrez and Alberto Velez-Van-Meerbeke",
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journal = "Journal of Genetics",
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T1 - Erratum to

T2 - Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype (Journal of Genetics, (2018), 97, 1, (337-340), 10.1007/s12041-018-0916-x)

AU - Vergara-Mendez, Laura Daniela

AU - Talero-Gutiérrez, Claudia

AU - Velez-Van-Meerbeke, Alberto

PY - 2018/6/1

Y1 - 2018/6/1

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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VL - 97

JO - Journal of Genetics

JF - Journal of Genetics

SN - 0022-1333

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ER -