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)

Research output: Contribution to journalComment/debate

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 is

especially in the language, with a very scarce vocabulary. She communicates with some hand signs or pointing words, although her auditory

responses in the hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 abnormalities. This double trisomy is a

rare 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)..

Original languageEnglish (US)
Number of pages1
JournalJournal of Genetics
Volume97
Issue number2
DOIs
StatePublished - Jun 1 2018

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

@article{f769f05bc6ee45f4acd8ff05717f9b4b,
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",
year = "2018",
month = "6",
day = "1",
doi = "10.1007/s12041-018-0952-6",
language = "English (US)",
volume = "97",
journal = "Journal of Genetics",
issn = "0022-1333",
publisher = "Springer India",
number = "2",

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TY - JOUR

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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U2 - 10.1007/s12041-018-0952-6

DO - 10.1007/s12041-018-0952-6

M3 - Comment/debate

AN - SCOPUS:85048040197

VL - 97

JO - Journal of Genetics

JF - Journal of Genetics

SN - 0022-1333

IS - 2

ER -