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

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Article

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

Journal of genetics - 1 Mar 2018

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

Abstract excerpt

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...

Topics

Child
Down Syndrome
Facies
Female
Hearing Tests
Humans
Karyotyping
Phenotype
Trisomy

Source

Open in PubMed

Identifiers

PMID: 29666354

Provenance

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