Cri du chat syndrome: a series of five cases
| Autor: | Samuel Philip Oommen, Sumita Danda, Harsha M Dangare, Vivi M. Srivastava, Beena Koshy, Maya Thomas, Reeba Roshan, Amisha N Sheth |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Microbiology (medical)
Cri-du-Chat Syndrome Male medicine.medical_specialty Microcephaly Pathology Cri du chat syndrome Cri du Chat Syndrome lcsh:QR1-502 Biology deletion 5p lcsh:Microbiology Pathology and Forensic Medicine Cytogenetics lcsh:Pathology medicine Humans Global developmental delay Child In Situ Hybridization Fluorescence medicine.diagnostic_test Genetic heterogeneity Chromosome Infant General Medicine medicine.disease developmental delay Chromosomal deletion syndrome Child Preschool Female Chromosome Deletion lcsh:RB1-214 Fluorescence in situ hybridization |
| Zdroj: | Indian Journal of Pathology and Microbiology, Vol 55, Iss 4, Pp 501-505 (2012) |
| ISSN: | 0974-5130 |
| Popis: | The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome. |
| Databáze: | OpenAIRE |
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