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

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...

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Autores:

Tipo de recurso:

Fecha de publicación:

2018

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/22353

Acceso en línea:

https://doi.org/10.1007/s12041-018-0916-x
https://repository.urosario.edu.co/handle/10336/22353

Palabra clave:

Blood
Child
Down syndrome
Facies
Female
Genetics
Hearing test
Human
Karyotyping
Phenotype
Trisomy
Child
Down syndrome
Facies
Female
Hearing tests
Humans
Karyotyping
Phenotype
Trisomy
Developmental delay
Double trisomy
Down’s syndrome
Triple x syndrome

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