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-...
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| Format: | Article |
| Language: | English |
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Universidad Nacional de Colombia
2017-07-01
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| Series: | Revista de la Facultad de Medicina |
| Subjects: | |
| Online Access: | https://revistas.unal.edu.co/index.php/revfacmed/article/view/57414 |
| _version_ | 1828433641168961536 |
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| author | Wilmar Saldarriaga Laura Collazos-Saa Julián Ramírez-Cheyne |
| author_facet | Wilmar Saldarriaga Laura Collazos-Saa Julián Ramírez-Cheyne |
| author_sort | Wilmar Saldarriaga |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-10T18:38:26Z |
| format | Article |
| id | doaj.art-b2608a05a1134f9b81e4ae6498470d2b |
| institution | Directory Open Access Journal |
| issn | 0120-0011 2357-3848 |
| language | English |
| last_indexed | 2024-12-10T18:38:26Z |
| publishDate | 2017-07-01 |
| publisher | Universidad Nacional de Colombia |
| record_format | Article |
| series | Revista de la Facultad de Medicina |
| spelling | doaj.art-b2608a05a1134f9b81e4ae6498470d2b2022-12-22T01:37:43ZengUniversidad Nacional de ColombiaRevista de la Facultad de Medicina0120-00112357-38482017-07-0165352552910.15446/revfacmed.v65n3.5741447050Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridizationWilmar Saldarriaga0Laura Collazos-Saa1Julián Ramírez-Cheyne2Universidad del Valle - Faculty of Health - Department Morphology - MACOS Research Group - Cali - Colombia.Universidad del Valle - Faculty of Health - Medicine and Surgery - Cali - Colombia.Universidad del Valle - Faculty of Health - Medicine and Surgery - Cali - Colombia.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.https://revistas.unal.edu.co/index.php/revfacmed/article/view/57414Cri-du-Chat Syndrome5p Deletion SyndromeComparative Genomic HybridizationMental Retardation |
| spellingShingle | Wilmar Saldarriaga Laura Collazos-Saa Julián Ramírez-Cheyne Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization Revista de la Facultad de Medicina Cri-du-Chat Syndrome 5p Deletion Syndrome Comparative Genomic Hybridization Mental Retardation |
| title | 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_short | 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 |
| topic | Cri-du-Chat Syndrome 5p Deletion Syndrome Comparative Genomic Hybridization Mental Retardation |
| url | https://revistas.unal.edu.co/index.php/revfacmed/article/view/57414 |
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