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

Research output: Contribution to journalArticle

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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).
Original languageEnglish (US)
Pages (from-to)337-340
Number of pages4
JournalJournal of Genetics
Volume97
Issue number2
DOIs
StatePublished - Mar 19 2018

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

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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’s syndrome.She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay isespecially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditoryresponses in hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 anomalies. This double trisomy is arare 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 = "3",
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language = "English (US)",
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pages = "337--340",
journal = "Journal of Genetics",
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}

Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype. / Daniela Vergara-Mendez, Laura; Talero-Gutierrez, Claudia; Velez-Van-Meerbeke, Alberto.

In: Journal of Genetics, Vol. 97, No. 2, 19.03.2018, p. 337-340.

Research output: Contribution to journalArticle

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AU - Daniela Vergara-Mendez, Laura

AU - Talero-Gutierrez, Claudia

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