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

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

doi:10.1007/s12041-018-0916-x

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

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

Producción científica: Contribución a revista › Artículo de Investigación › revisión exhaustiva

5 Citas (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).

Título traducido de la contribución	Trisomía doble (Kariotipo XXX+21) en una niña de 6 años con fenotipo Down
Idioma original	Inglés estadounidense
Páginas (desde-hasta)	337-340
Número de páginas	4
Publicación	Journal of Genetics
Volumen	97
N.º	2
DOI	https://doi.org/10.1007/s12041-018-0916-x https://doi.org/10.1007/s12041-018-0952-6
Estado	Publicada - mar. 19 2018

ODS de las Naciones Unidas

Este resultado contribuye a los siguientes Objetivos de Desarrollo Sostenible

ODS 3: Salud y bienestar

Áreas temáticas de ASJC Scopus

Genética

Acceder al documento

Otros archivos y enlaces

Citar esto

@article{42b6c3192b0449a79c6c1f353560e26f,

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{\textquoteright}s syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 anomalies. This double trisomy is a rare 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",

year = "2018",

month = mar,

day = "19",

doi = "10.1007/s12041-018-0916-x",

language = "English (US)",

volume = "97",

pages = "337--340",

journal = "Journal of Genetics",

issn = "0022-1333",

publisher = "Springer",

number = "2",

}

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 is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 anomalies. This double trisomy is a rare 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 is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 anomalies. This double trisomy is a rare 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 - https://www.scopus.com/pages/publications/85044066279

UR - https://www.scopus.com/pages/publications/85044066279#tab=citedBy

U2 - 10.1007/s12041-018-0916-x

DO - 10.1007/s12041-018-0916-x

M3 - Research Article

C2 - 29666354

SN - 0022-1333

VL - 97

SP - 337

EP - 340

JO - Journal of Genetics

JF - Journal of Genetics

IS - 2

ER -

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

Resumen

ODS de las Naciones Unidas

Áreas temáticas de ASJC Scopus

Acceder al documento

Otros archivos y enlaces

Huella

Citar esto