AUTOSOMAL TRISOMY: A CYTOGENETIC STUDY IN LUCKNOW REGION
Journal Title: JOURNAL OF ANATOMICAL SCIENCES - Year 2017, Vol 25, Issue 2
Abstract
Introduction: Trisomy refers to chromosomal aneuploidy in which cells possess a karyotype that is not a multiple of the haploid complement. It is the most common numerical chromosomal abnormality. It usually occurs due to the meiotic non – disjunction of chromosomes. Trisomy of autosomes is most commonly associated with Trisomy 21 or Down’s syndrome, Trisomy 18 or Edward syndrome, Trisomy 13 or Patau syndrome. Other rare trisomies are trisomy 8, trisomy 9, trisomy 2.Confirmation of trisomy syndromes is done by cytogenetic techniques which help in the diagnosis of various chromosomal aberrations associated with these trisomy syndromes. This study was carried out with the aim to carry out a cytogenetic evaluation of suspected cases of trisomy in both sexes, to find the frequency of trisomy disorder, to study the frequency of types of trisomies, to evaluate the type of chromosomal anomalies in different trisomy. Material & Methods: Karyograms of suspected cases of trisomies was prepared from the peripheral blood using GTG banding technique. The karyograms were analysed using cytovision software. Results: Out of 52 suspected cases of trisomy; karyograms could be obtained in 46 cases. Out of these 46 cases 43 (93.5%) had trisomy 21 and 6 cases showed no abnormality. Other trisomy disorders could not be reported. Conclusion: Down’s syndrome was found to be the most common trisomy disorder in Lucknow region. Hence it is important to carry out a cytogenetic analysis of all the suspected cases to confirm the diagnosis, so that they can be managed appropriately for various clinical co-morbidities.
Authors and Affiliations
Priyanka Pandey
Keywords
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