Sunil Kumar Polipalli1, Vijay Kumar Karra2, Ankur Jindal3, Madhavi Puppala4, Pratiksha Singh5, Kanchan Rawat6, Seema Kapoor7. 1. Cytogeneticist, Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital , New Delhi, India . 2. Research Associate, Department of Medicine, MAMC , New Delhi, India . 3. Student, Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital , New Delhi, India . 4. Senior Research Fellow, Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital , New Delhi, India . 5. PhD Student, Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital , New Delhi, India . 6. Cytogenetic Technician, Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital , New Delhi, India . 7. Professor, Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital , New Delhi, India .
Abstract
INTRODUCTION: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. AIM: The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis. MATERIALS AND METHODS: Total of 859 patients ranging from newborn to 37 years of age were referred to the division of genetics, Department of Paediatrics between 2010 and 2015, with a variety of clinical disorders; Down syndrome (DS), Turner's syndrome (TS) and Klinefelter syndrome; amenorrhea; ambiguous sex and multiple congenital malformations. Chromosomal analysis was performed on lymphocyte culture according to standard methods. RESULTS: Of the 859 cases studied, 371 (43.1%) had chromosomal abnormalities. The most common autosomal abnormalities were DS 302 (81.4%) and sex chromosomal abnormalities were TS 51 (13.7%). Numerical abnormalities were accounted for 353 (41.0%) and structural abnormalities 18 (2.0%), respectively. Various other chromosomal anomalies were also reported. CONCLUSION: We have reviewed the incidence and distribution of chromosomal abnormalities and found higher rate of chromosomal abnormalities 43.1% in the referred cases. Our data suggest that chromosomal analysis is important tool in the evaluation of genetic disorders and helps clinicians to provide accurate diagnosis and proper genetic counselling.
INTRODUCTION:Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. AIM: The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis. MATERIALS AND METHODS: Total of 859 patients ranging from newborn to 37 years of age were referred to the division of genetics, Department of Paediatrics between 2010 and 2015, with a variety of clinical disorders; Down syndrome (DS), Turner's syndrome (TS) and Klinefelter syndrome; amenorrhea; ambiguous sex and multiple congenital malformations. Chromosomal analysis was performed on lymphocyte culture according to standard methods. RESULTS: Of the 859 cases studied, 371 (43.1%) had chromosomal abnormalities. The most common autosomal abnormalities were DS 302 (81.4%) and sex chromosomal abnormalities were TS 51 (13.7%). Numerical abnormalities were accounted for 353 (41.0%) and structural abnormalities 18 (2.0%), respectively. Various other chromosomal anomalies were also reported. CONCLUSION: We have reviewed the incidence and distribution of chromosomal abnormalities and found higher rate of chromosomal abnormalities 43.1% in the referred cases. Our data suggest that chromosomal analysis is important tool in the evaluation of genetic disorders and helps clinicians to provide accurate diagnosis and proper genetic counselling.
Entities:
Keywords:
Aneuploidy; Autosomes; Cytogenetic analysis; Karyotypes; Sex chromosomes
Authors: Mallana T Goud; Salma M Al-Harassi; Shafiya A Al-Khalili; Kamla K Al-Salmani; Suleiman M Al-Busaidy; Anna Rajab Journal: Saudi Med J Date: 2005-12 Impact factor: 1.484