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
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Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization |
| title |
Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization |
| spellingShingle |
Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization 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 |
| title_short |
Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization |
| title_full |
Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization |
| title_fullStr |
Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization |
| title_full_unstemmed |
Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization |
| title_sort |
Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization |
| dc.creator.fl_str_mv |
Saldarriaga, Wilmar Collazos-Saa, Laura Ramírez-Cheyne, Julián |
| dc.contributor.author.spa.fl_str_mv |
Saldarriaga, Wilmar Collazos-Saa, Laura Ramírez-Cheyne, Julián |
| dc.subject.ddc.spa.fl_str_mv |
61 Ciencias médicas; Medicina / Medicine and health |
| topic |
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 |
| dc.subject.proposal.spa.fl_str_mv |
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 |
| description |
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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2017 |
| dc.date.issued.spa.fl_str_mv |
2017-07-01 |
| dc.date.accessioned.spa.fl_str_mv |
2019-07-02T23:43:53Z |
| dc.date.available.spa.fl_str_mv |
2019-07-02T23:43:53Z |
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Artículo de revista |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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info:eu-repo/semantics/article |
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info:eu-repo/semantics/publishedVersion |
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http://purl.org/coar/resource_type/c_6501 |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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Text |
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http://purl.org/redcol/resource_type/ART |
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http://purl.org/coar/resource_type/c_6501 |
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publishedVersion |
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ISSN: 2357-3848 |
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https://repositorio.unal.edu.co/handle/unal/65035 |
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http://bdigital.unal.edu.co/66058/ |
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ISSN: 2357-3848 |
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https://repositorio.unal.edu.co/handle/unal/65035 http://bdigital.unal.edu.co/66058/ |
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spa |
| language |
spa |
| dc.relation.spa.fl_str_mv |
https://revistas.unal.edu.co/index.php/revfacmed/article/view/57414 |
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Universidad Nacional de Colombia Revistas electrónicas UN Revista de la Facultad de Medicina Revista de la Facultad de Medicina |
| dc.relation.references.spa.fl_str_mv |
Saldarriaga, Wilmar and Collazos-Saa, Laura and Ramírez-Cheyne, Julián (2017) Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization. Revista de la Facultad de Medicina, 65 (3). pp. 525-529. ISSN 2357-3848 |
| dc.rights.spa.fl_str_mv |
Derechos reservados - Universidad Nacional de Colombia |
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http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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info:eu-repo/semantics/openAccess |
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Atribución-NoComercial 4.0 Internacional Derechos reservados - Universidad Nacional de Colombia http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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openAccess |
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application/pdf |
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Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina |
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Universidad Nacional de Colombia |
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https://repositorio.unal.edu.co/bitstream/unal/65035/1/57414-359195-2-PB.pdf https://repositorio.unal.edu.co/bitstream/unal/65035/2/57414-359195-2-PB.pdf.jpg |
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Atribución-NoComercial 4.0 InternacionalDerechos reservados - Universidad Nacional de Colombiahttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Saldarriaga, Wilmar36eafbe7-3553-4ea3-894c-0ccf9a040beb300Collazos-Saa, Laurab58ca44e-f840-417a-982c-86366bbeabe3300Ramírez-Cheyne, Julián9b476ef8-51fe-481f-9882-097130a809ae3002019-07-02T23:43:53Z2019-07-02T23:43:53Z2017-07-01ISSN: 2357-3848https://repositorio.unal.edu.co/handle/unal/65035http://bdigital.unal.edu.co/66058/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.El síndrome de cri du chat o del maullido de gato es causado por una deleción en el brazo corto del cromosoma 5; el tamaño de la pérdida de material genético varía desde solo la región 5p15.2 hasta el brazo entero. La prevalencia va desde 1 por 15 000 habitantes hasta 1 por 50 000 habitantes. Su diagnóstico se puede confirmar con cariotipo con bandas G de alta resolución, hibridación fluorescente in situ o hibridación genómica comparativa por microarreglos (HGCm); este se sospecha en infantes con un llanto similar al maullido de un gato, fascies dismórficas, hipotonía y retardo del desarrollo psicomotor; sin embargo, en los adultos afectados los hallazgos fenotípicos son menos específicos.Se presenta el caso de una mujer de 21 años con retardo mental severo y tricotilomanía, que no controla esfínteres y no se baña ni come sola; solo emite ruidos y tiene facies dismórficas. El cariotipo de bandas G es reportado 46, XX y la HGCm muestra microdeleción de 18.583Mb en 5p15.33p14.3, incluyendo región crítica de cri du chat. En pacientes de este tipo se debe realizar HGCm para hacer un diagnóstico etiológico, establecer un pronóstico, ordenar pruebas médicas adicionales y tratamientos específicos y realizar la adecuada asesoría genética.application/pdfspaUniversidad Nacional de Colombia - Sede Bogotá - Facultad de Medicinahttps://revistas.unal.edu.co/index.php/revfacmed/article/view/57414Universidad Nacional de Colombia Revistas electrónicas UN Revista de la Facultad de MedicinaRevista de la Facultad de MedicinaSaldarriaga, Wilmar and Collazos-Saa, Laura and Ramírez-Cheyne, Julián (2017) Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization. Revista de la Facultad de Medicina, 65 (3). pp. 525-529. ISSN 2357-384861 Ciencias médicas; Medicina / Medicine and healthCri-du-Chat Syndrome5p Deletion SyndromeComparative Genomic HybridizationMental RetardationSíndrome del maullido del gatoSíndrome de deleción del brazo corto del cromosoma 5hibridación genómica comparativaDiscapacidad intelectualCri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridizationArtículo de revistainfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85Texthttp://purl.org/redcol/resource_type/ARTORIGINAL57414-359195-2-PB.pdfapplication/pdf3415593https://repositorio.unal.edu.co/bitstream/unal/65035/1/57414-359195-2-PB.pdf6c5bb80a6fe9ecbe3ed8fb4229f5c94cMD51THUMBNAIL57414-359195-2-PB.pdf.jpg57414-359195-2-PB.pdf.jpgGenerated Thumbnailimage/jpeg8482https://repositorio.unal.edu.co/bitstream/unal/65035/2/57414-359195-2-PB.pdf.jpg7ef27d7fafb61c6697bb45dbad74c94bMD52unal/65035oai:repositorio.unal.edu.co:unal/650352024-05-08 23:09:28.214Repositorio Institucional Universidad Nacional de Colombiarepositorio_nal@unal.edu.co |