Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

Thillainathan, Sharmila; Sirisena, Nirmala D.; Kariyawasam, Kariyawasam W.J.C.; Jayasekara, Rohan W.; Dissanayake, Vajira H. W.

doi:10.1007/s12519-014-0526-5

Cited by 16 publications

(9 citation statements)

References 15 publications

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“…46XY or 46XX, while karyotype abnormalities leading to sex chromosome DSD are less common. 14,15 Our study also showed similar results with only 1 case (1.9%) with a 45, X/46,XY mosaic karyotype.…”

Section: Discussionsupporting

confidence: 86%

Cytogenetic Analysis of Patients With Ambiguous Genitalia

Zaidi

Mahmood

Latif

et al. 2021

PAFMJ

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Objective: To determine the magnitude and classification of cases of ambiguous genitalia presenting to our setup. Study Design: Cross-sectional study. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi Pakistan, from Aug 2018 to Feb 2019. Methodology: All the patients with ambiguous genitalia referred for cytogenetic analysis, were included in the study. The patients were subjected to a detailed history and physical examination. The record of radiological investigations was were obtained. Cytogenetic analysis was performed using the conventional G-banding technique. Hormonal testing included 17- hydroxyprogesterone (17-OHP) levels was also performed. Results: Fifty-one cases of ambiguous genitalia were studied. The median age was 15 months. Thirty-three patients (64.7%) had a 46XY karyotype, 17 (33.3%) had a 46XX karyotype while 1 (1.9%) had 45X/46, XY mosaic karyotype. Thirty patients (58.8%) were products of consanguineous marriage. Congenital adrenal hyperplasia was diagnosed in 12 cases (70.5%) of 46 XX karyotype and in 3 cases (9%) of 46XY karyotype. Conclusion: Ambiguous genitalia, currently categorized as disorders of sex development, are not uncommon in our populartion. Increased awareness and early diagnosis are crucial to prevent life threatening complications of congenital adrenal hyperplasia, to determine sex of rearing, and to counsel the parents or patients.

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Section: Discussionsupporting

confidence: 86%

Cytogenetic Analysis of Patients With Ambiguous Genitalia

Zaidi

Mahmood

Latif

et al. 2021

PAFMJ

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“…A cytogenetic analysis of nearly 30,000 children with Down syndrome in England and Wales reported that 2.7% of the cases were due to Robertsonian translocations including rob(21q21q) [24]. A study conducted in our laboratories in 2015 showed a higher incidence (4.7%, 31/665) of Down syndrome due to Robertsonian translocations [25]. Herein, we expand the collection of cases to 91, of which majority were due to rob(14q21q) followed by rob(21q21q).…”

Section: Discussionmentioning

confidence: 99%

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans

Paththinige

Sirisena

Kariyawasam

et al. 2019

BioMed Research International

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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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“…Although antenatal genetic testing for chromosomal abnormalities and other rare disorders are currently available, many children with these disorders are born because termination of pregnancies for a fetal indication is legally prohibited in the country. A retrospective audit of the cytogenetic reports of 1,554 consecutive children with suspected chromosomal disorders who underwent karyotyping at the two main genetic diagnostic centers (HGU and ACGRM) from January 2006 to December 2011 showed that abnormal karyotypes were found in 783 (50.6%) children (Thillainathan, Sirisena, Kariyawasam, Jayasekara, & Dissanayake, ). Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively.…”

Section: Introductionmentioning

confidence: 99%

Genetics and genomic medicine in Sri Lanka

Sirisena

Dissanayake

2019

Molec Gen & Gen Med

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The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics‐based translational medicine mainly in the developed world. However, the development of such advances has been hampered in most parts of the developing world due to scarcity of resources and trained personnel. Genetics and genomic medicine are currently in the process of being integrated into the Sri Lankan health care system. These developments have taken place mainly due to the heightened awareness and increasing demands made by the public for provision of genetic diagnostic and therapeutic services in clinical care. Due to the exorbitant costs incurred in the maintenance of these services and the dearth of adequately trained manpower, only a few centers in the country, mainly in Universities or private sector, are currently engaged in providing these services to the public. This article aims to provide an overview of the genetics and genomic medicine services in Sri Lanka from its early developments to the current state.

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Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

Abstract: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.

Cited by 16 publications

References 15 publications

Cytogenetic Analysis of Patients With Ambiguous Genitalia

Cytogenetic Analysis of Patients With Ambiguous Genitalia

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans

Genetics and genomic medicine in Sri Lanka

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