Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization
The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The size of genetic material loss varies from the 5p15.2 region only to the whole arm. Prevalence rates range between 1:15000 and 1:50000 live births. Diagnosis is suspected on infants with a high-pitched (cat-...
- Autores:
-
Saldarriaga, Wilmar
Collazos-Saa, Laura
Ramírez-Cheyne, Julián
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2017
- Institución:
- Universidad Nacional de Colombia
- Repositorio:
- Universidad Nacional de Colombia
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.unal.edu.co:unal/65035
- Acceso en línea:
- https://repositorio.unal.edu.co/handle/unal/65035
http://bdigital.unal.edu.co/66058/
- Palabra clave:
- 61 Ciencias médicas; Medicina / Medicine and health
Cri-du-Chat Syndrome
5p Deletion Syndrome
Comparative Genomic Hybridization
Mental Retardation
Síndrome del maullido del gato
Síndrome de deleción del brazo corto del cromosoma 5
hibridación genómica comparativa
Discapacidad intelectual
- Rights
- openAccess
- License
- Atribución-NoComercial 4.0 Internacional
Summary: | The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The size of genetic material loss varies from the 5p15.2 region only to the whole arm. Prevalence rates range between 1:15000 and 1:50000 live births. Diagnosis is suspected on infants with a high-pitched (cat-like) cry, facial dysmorfism, hypotonia and delayed psychomotor development. In adults, phenotypic findings are less specific. It is confirmed through high-resolution G-banding karyotype, fluorescent in situ hybridization or microarray-based comparative genomic hybridization (a-CGH).The following is the case report of a 21-year-old female patient with severe mental retardation and trichotillomania, who does not control sphincters and does not bathe or eat by herself. Her communication is based only on sounds and dysmorphic facies. The G-band karyotype reported is 46, XX. a-CGH shows 18.583Mb interstitial microdeletion in 5p15.33p14.3, including the cri-du-chat critical region. In children or adults with unexplained mental retardation and normal karyotype results (like this case), an a-CGH should be performed to make an etiological diagnosis, establish the prognosis, order additional medical tests and specific treatments, and offer appropriate genetic counseling. |
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