Chromosomal anomalies in patients with retinoblastoma
| Autor: | Miriam G. Wilson, Joseph W. Towner, Allan J. Ebbin, William H. Spencer |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Aneuploidy Histopathological examination Biology Long arm Azure Stains Intellectual Disability Genetics medicine Humans In patient Child Sex Chromosome Aberrations Genetics (clinical) Chromosome Aberrations Retinoblastoma Eye Neoplasms Infant Newborn Infant Chromosome Karyotype medicine.disease Molecular biology eye diseases Child Preschool Karyotyping Female Chromosome Deletion Unilateral Retinoblastoma Chromosomes Human 13-15 |
| Zdroj: | Clinical Genetics. 12:1-8 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | Karyotypes from 50 persons with retinoblastoma confirmed by histopathological examination were studied by conventional staining and Giemsa-banding techniques. Two chromosomal anomalies were found. An interstitial deletion of the long arm of No. 13 chromosome was identified by Giemsa-banding in the karyotypes from a boy with unilateral retinoblastoma. Another boy with unilateral tumor had a karyotype of 47,XXY. These findings provide additional evidence that a deletion of chromosome No. 13, most likely involving band 13q14, is associated with the development of retinoblastoma. In conjunction with other reports, our findings also suggest that retinoblastoma may be found more frequently in children with chromosomal aneuploidy. |
| Databáze: | OpenAIRE |
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