Ajinkya Jadhav - Academia.edu (original) (raw)
I m in leave in India I m fitness expert last 14 years courses done Fitness trainer Gold gym university 2011Personal trainer course done by IFSI 2018 and sport nutrition done by IFSI 2019
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Papers by Ajinkya Jadhav
Global Journal of Medical Research, 2022
Purpose: The purpose of this study is to find out the types and incidence rate of chromosomal abn... more Purpose: The purpose of this study is to find out the types and incidence rate of chromosomal abnormalities and the relationship between maternal age and chromosomal abnormality in products of conception by retrospective analysis. Method: Karyotype study using standard GTG banding and FISH study for aneuploidy detection was done from products of conception samples. Results: A total of 513 cases of products of conception were studied retrospectively. 98 cases were studied by conventional cytogenetic technique and 415 cases were studied by a FISH method. The chromosomal abnormality was observed in 97 cases (18.91%). Trisomy was found to be a major chromosomal abnormality amongst the cases studied, followed by triploidy and monosomy. A higher incidence of chromosomal abnormality was found in women with advanced maternal age as compared to the maternal age less than 35 years.
Journal of Fetal Medicine, 2021
It is widely known that the increased prevalence of chromosomal abnormalities is mainly due to Ro... more It is widely known that the increased prevalence of chromosomal abnormalities is mainly due to Robertsonian and reciprocal translocations as compared to duplication, deletion and inversion. In case of balanced translocations, there are no phenotypic characteristics observed in the carrier, but it leads to increased risk of producing unbalanced gametes. In this case report we present a prenatal case diagnosed at 16 weeks of gestation with trisomy for chromosome 18 along with inherited balanced reciprocal translocation between chromosome 7 and 18. Chromosome analysis of fetal amniotic fluid and maternal peripheral blood was performed at the Clinical Genetics Department. Fetal chromosome analysis confirmed a rare genetic abnormality 47,t(7;18)(p13;q21)mat, + 18. Maternal karyotype confirmed a balanced reciprocal translocation 46,XX,t(7;18)(p13;q21). The pregnancy was terminated at 16–17 weeks due to abnormal karyotype results. The present findings can be used as an effective tool for reproductive guidance and genetic counseling of the couple.
IOSR Journal of Pharmacy and Biological Sciences, 2013
We studied a proband of 23 years female, who had history of primary amenorrhea and was diagnosed ... more We studied a proband of 23 years female, who had history of primary amenorrhea and was diagnosed with Partial androgen insensitivity syndrome (PAIS), an X-linked disorder caused by mutation in androgen receptor gene. Karyotyping was conducted by analysis of G-banded chromosomes using heparinized peripheral blood sample. The molecular study using PCR for confirmation of the presence of Y chromosome (SRY gene) was performed. Based on the clinical findings, hormonal profile and USG report of the proband, it was confirmed that the proband is diagnosed with PAIS a type of AIS which was further counseled for the better future.
Global Journal of Medical Research, 2022
Purpose: The purpose of this study is to find out the types and incidence rate of chromosomal abn... more Purpose: The purpose of this study is to find out the types and incidence rate of chromosomal abnormalities and the relationship between maternal age and chromosomal abnormality in products of conception by retrospective analysis. Method: Karyotype study using standard GTG banding and FISH study for aneuploidy detection was done from products of conception samples. Results: A total of 513 cases of products of conception were studied retrospectively. 98 cases were studied by conventional cytogenetic technique and 415 cases were studied by a FISH method. The chromosomal abnormality was observed in 97 cases (18.91%). Trisomy was found to be a major chromosomal abnormality amongst the cases studied, followed by triploidy and monosomy. A higher incidence of chromosomal abnormality was found in women with advanced maternal age as compared to the maternal age less than 35 years.
Journal of Fetal Medicine, 2021
It is widely known that the increased prevalence of chromosomal abnormalities is mainly due to Ro... more It is widely known that the increased prevalence of chromosomal abnormalities is mainly due to Robertsonian and reciprocal translocations as compared to duplication, deletion and inversion. In case of balanced translocations, there are no phenotypic characteristics observed in the carrier, but it leads to increased risk of producing unbalanced gametes. In this case report we present a prenatal case diagnosed at 16 weeks of gestation with trisomy for chromosome 18 along with inherited balanced reciprocal translocation between chromosome 7 and 18. Chromosome analysis of fetal amniotic fluid and maternal peripheral blood was performed at the Clinical Genetics Department. Fetal chromosome analysis confirmed a rare genetic abnormality 47,t(7;18)(p13;q21)mat, + 18. Maternal karyotype confirmed a balanced reciprocal translocation 46,XX,t(7;18)(p13;q21). The pregnancy was terminated at 16–17 weeks due to abnormal karyotype results. The present findings can be used as an effective tool for reproductive guidance and genetic counseling of the couple.
IOSR Journal of Pharmacy and Biological Sciences, 2013
We studied a proband of 23 years female, who had history of primary amenorrhea and was diagnosed ... more We studied a proband of 23 years female, who had history of primary amenorrhea and was diagnosed with Partial androgen insensitivity syndrome (PAIS), an X-linked disorder caused by mutation in androgen receptor gene. Karyotyping was conducted by analysis of G-banded chromosomes using heparinized peripheral blood sample. The molecular study using PCR for confirmation of the presence of Y chromosome (SRY gene) was performed. Based on the clinical findings, hormonal profile and USG report of the proband, it was confirmed that the proband is diagnosed with PAIS a type of AIS which was further counseled for the better future.