The history of human cytogenetics in India—A review

Dutta, Usha R.

doi:10.1016/j.gene.2016.01.052

Cited by 5 publications

(2 citation statements)

References 43 publications

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“…Balanced translocations are the type of chromosomal abnormalities that alter the chromosomal structure and can lead to the primary infertility or secondary infertility in the carrier. To detect chromosomal abnormalities, various techniques can be utilised such as conventional GTG banding, chromosomal painting, single nucleotide polymorphism (SNP) array, comparative genomic hybridization (CGH) out of which conventional cytogenetics has always been a favourite of diagnostic laboratories due to low cost involved (Dutta, ). But, culture failure, small specimen size and low band resolution have always been a big limiting factor for this technique.…”

Section: Introductionmentioning

confidence: 99%

Identification of novel translocation between short arm of chromosome 4 and long arm of chromosome 6 in an infertile man using Interphase Chromosome Profiling (ICP)

Kaul

Kaur

Vats³

et al. 2018

Andrologia

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Conventional cytogenetics has always been a favourite to detect chromosomal aberrations. Carriers of chromosomal translocation are often phenotypically normal but are infertile. Couples are often advised to go for karyotyping, but culture failure or improper metaphase spread with poor banding often makes the analysis difficult. We report here a novel translocation between short arm of chromosome 4 and long arm of chromosome 6 in an infertile man using an advanced molecular cytogenetic technique of Interphase Chromosome Profiling (ICP).

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Section: Introductionmentioning

confidence: 99%

Identification of novel translocation between short arm of chromosome 4 and long arm of chromosome 6 in an infertile man using Interphase Chromosome Profiling (ICP)

Kaul

Kaur

Vats³

et al. 2018

Andrologia

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“…A análise cromossômica microscópica de células cultivadas tem sido considerada uma técnica padrão ouro para o diagnóstico de cromossomopatias (12) Bandeamento R é uma técnica que produz bandas complementares as bandas G e, por fim, o bandeamento NOR que identifica regiões organizadoras do nucléolo em cromossomos acrocêntricos. Nessas regiões estão localizados os genes para a produção de RNA ribossômico (37). O desenvolvimento dessas técnicas permitiu identificação de diversas alterações cromossômicas e, consequentemente, a aplicação clínica desses métodos no diagnóstico prénatal (38).…”

Section: Introductionunclassified

Validação de teste de reação em cadeia da polimerase fluorescente quantitativa (QF-PCR) para detecção de aneuploidias fetais

Moraes¹

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A study of machine learning techniques for Automated Karyotyping System

Kaur,

Dhir

2023

Preprint

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Genetic abnormalities constitute a considerable share of all the existing societal healthcare issues. There has been a dire need for the automation of chromosomal analysis, hence supporting laboratory workers in effective classification and identifying such abnormalities. Nevertheless, with many modern image processing techniques, like Karyotyping, improved the life expectancy and the quality of life of such cases. The standard image-based analysis procedures include Pre-processing, Segmentation, Feature extraction, and Classification of images. When explicitly considering Karyotyping, the processes of Segmentation and Classification of chromosomes have been the most complex, with much existing literature focusing on the same. Various model-based machine learning models have proven to be highly effective in solving existing issues and building an artificial intelligence-based, autonomous-centric karyotyping system. An autonomous Karyotyping System will connect the pre-processing, Segmentation, and classification of metaphase images. The review focuses on machine learning-based algorithms for efficient classification accuracy. The study has the sole motive of moving towards an effective classification method for karyotype metaphase images, which will eventually predict the fetus’s abnormalities more effectively. The study’s results shall benefit future researchers working in this area.

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The history of human cytogenetics in India—A review

Cited by 5 publications

References 43 publications

Identification of novel translocation between short arm of chromosome 4 and long arm of chromosome 6 in an infertile man using Interphase Chromosome Profiling (ICP)

Identification of novel translocation between short arm of chromosome 4 and long arm of chromosome 6 in an infertile man using Interphase Chromosome Profiling (ICP)

Validação de teste de reação em cadeia da polimerase fluorescente quantitativa (QF-PCR) para detecção de aneuploidias fetais

A study of machine learning techniques for Automated Karyotyping System

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