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

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

Research output: Contribution to Journal › Research Article › peer-review

4 Scopus citations

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 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).

Translated title of the contribution	Trisomía doble (Kariotipo XXX+21) en una niña de 6 años con fenotipo Down
Original language	English (US)
Pages (from-to)	337-340
Number of pages	4
Journal	Journal of Genetics
Volume	97
Issue number	2
DOIs	https://doi.org/10.1007/s12041-018-0916-x https://doi.org/10.1007/s12041-018-0952-6
State	Published - Mar 19 2018

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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Genetics

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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{\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).",

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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).

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DO - 10.1007/s12041-018-0916-x

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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

Abstract

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