The study completed activity a postnatal cytogenetic evaluation of doubtful cases of autosomal trisomies in both genders to report their frequency, types and their miscellaneous cytogenetic variants in Eastern Uttar Pradesh and still correlate them accompanying maternal age. Trisomies are syndromes developing from the presence of an supplementary copy of all or a part of an autosomal chromosome (three copies a suggestion of correction the usual two). This can happen via meiotic nondisjunction (producing a female reproductive cell with two copies of a deoxyribonucleic acid instead of individual) or a Robertsonian translocation (where the chromosomal material is rearranged but equalized in a parent and enhances unbalanced after chromosomal break-up). It often takes place as a result of chromosomal non-disjunction all the while meiosis. The most frequently seen autosomal trisomies are trisomy 21, as known or named at another time or place Down syndrome, trisomy 18, sometimes popular as Edward syndrome, and trisomy 13, as known or named at another time or place Patau syndrome. Trisomy 8, Trisomy 9, and Trisomy 2 are other exceptional trisomies. Cytogenetic methods that aid in the discovery of various chromosomal anomalies connected to these trisomy syndromes are used to confirm trisomy syndromes. Karyograms of doubtful cases of trisomies was prepared from the minor blood using GTG banding method Using the standard protocols. The karyograms were analysed utilizing cytovision software. Out of 52 doubtful cases of trisomy; karyograms could be obtained in 46 cases. Out of these 46 cases 43 (93.5%) had trisomy 21 and 6 cases revealed no abnormality. Other trisomy disorders manage not be reported. Among patients accompanying Down syndrome, free trisomy (n=40; 93%) was stated to be ultimate common variant followed by Robertsonian fluctuation (n=2; 4.7%) and mosaic trisomy (n=1; 2.3%) individually. It was more common in males (n=27; 62.7%) than women (n=16 ;37.3%) Male to female ratio of Down disease patients was 1.68. 50% of sufferers with Down syndrome were innate to mothers dropping in age group of 36-40 y. Down"s syndrome was erect to be ultimate common trisomy disorder in Lucknow domain. Hence it is important to carry out a cytogenetic study of all the suspected cases to validate the diagnosis, so that they maybe managed suitably for various clinical co-morbidities.
Author(s) Details:
Priyanka Pandey,
Department
of Anatomy, Hind Institute of Medical Sciences, Sitapur, UP, India.
Rakesh
Kumar Verma,
Department
of Anatomy, King George’s Medical University, Lucknow, UP, India.
Navneet Kumar,
Department of Anatomy, King George’s Medical University, Lucknow,
UP, India.
Sciddhartha Koonwar,
Department of Pediatrics, King George’s Medical University, Lucknow,
UP, India.
Please see the link here: https://stm.bookpi.org/ARBS-V4/article/view/11974
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