The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.
| Title: | The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans. |
|---|---|
| Authors: | Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.; Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Sri Lanka.; Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.; Kariyawasam UGIU; Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.; Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.; Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo, Sri Lanka. |
| Source: | BioMed research international [Biomed Res Int] 2019 Apr 02; Vol. 2019, pp. 9797104. Date of Electronic Publication: 2019 Apr 02 (Print Publication: 2019). |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101600173 Publication Model: eCollection Cited Medium: Internet ISSN: 2314-6141 (Electronic) NLM ISO Abbreviation: Biomed Res Int Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2024- : [Hoboken, NJ] : Wiley; Original Publication: New York, NY : Hindawi Pub. Co. |
| MeSH Terms: | Translocation, Genetic*; Abortion, Habitual/*genetics ; Chromosomes, Human/*genetics ; Down Syndrome/*genetics; Abortion, Habitual/epidemiology ; Down Syndrome/epidemiology ; Sri Lanka/epidemiology ; Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genetic Counseling ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Retrospective Studies |
| Abstract: | Translocations are the most common type of structural chromosomal abnormalities. Unbalanced translocations are usually found in children who present with congenital abnormalities, developmental delay, or intellectual disability. Balanced translocations are usually found in adults who frequently present with reproductive failure; either subfertility, or recurrent pregnancy loss. Herein, we report the spectrum and frequency of translocations in a Sri Lankan cohort. A database of patients undergoing cytogenetic testing was maintained prospectively from January 2007 to December 2016 and analyzed, retrospectively. A total of 15,864 individuals were tested. Among them, 277 (1.7%) had translocations. There were 142 (51.3%) unbalanced translocations and 135 (48.7%) balanced translocations. Majority (160; 57.8%) were Robertsonian translocations. There were 145 (52.3%) children and adolescents aged less than 18 years with translocations, and 142 (97.9%) were unbalanced translocations. Majority [138 (95.2%)] were referred due to congenital abnormalities, developmental delay, or intellectual disability, and 91 were children with translocation Down syndrome. All adults aged 18 years or above (132) had balanced translocations. Subfertility and recurrent pregnancy loss [84 (63.6%)] and offspring(s) with congenital abnormalities [48 (36.4%)] were the most common indications in this group. Majority (68.2%) in this group were females with reciprocal translocations (55.3%). Chromosomes 21, 14, and 13 were the most commonly involved with rob(14q21q) [72 (26%)], rob(21q21q) [30 (13.7%)], and rob(13q14q) [34 (12.3%)] accounting for 52% of the translocations. Chromosomes 1, 8, 11, and 18 were most commonly involved in reciprocal translocations. The observed high frequency of chromosomal translocations in our cohort highlights the importance of undertaking cytogenetic evaluation and providing appropriate genetic counseling for individuals with the phenotypes associated with these translocations. |
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| Entry Date(s): | Date Created: 20190508 Date Completed: 20190904 Latest Revision: 20200225 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC6466940 |
| DOI: | 10.1155/2019/9797104 |
| PMID: | 31061830 |
| Database: | MEDLINE |
Journal Article