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Partial trisomy of chromosome 9 with congenital anomalies
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Abstracts / Journal of the Anatomical Society of India 65S (2016) S98–S142
The present case was a case of Down’s syndrome with Robertsonian translocation t (21; 21) probably arising de novo. Conflicts of interest The author has none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.446 140 Partial trisomy of chromosome 9 with congenital anomalies Preeti Kumari ∗ , Dinesh Kumar Baitha, Sriparna Basu, Royana Singh BHU, Varanasi, Uttar Pradesh, India Chromosomal studies were carried out on the patient’s peripheral blood culture. In addition to routine chromosome analysis, G banding studies were done through trypsin banding method. A case of trisomy for the short arm of chromosome 9 in patient is described, Phenotype shows facial and digital anomalies, with particular emphasis on multiple congenital anomalies including omphalocoele unrupted with liver and gall bladder, microstomia, micro-opthalmia and an additional finger, hydrocephalous, with chief complaint in breathing. The karyotyping results from both parents was karyotyped and both are found to be normal Therefore, the child was trisomic for the region 9p13–pter Following this, the diagnosis was changed to trisomy of the short arm of chromosome 9. With regard to the origin of extra p arm pattern several hypotheses can be made. (1) A disturbance of meiosis I on the paternal or maternal side in which two of the four chromatids of a bivalent 9 are rearranged in such a way that a chromosome is formed interpreted as an isochromosome. This chromosome, together with a normal chromosome 9, would then go to 1 gamete as a result of a faulty distribution. (2) A selective endo reduplication involving the entire short arm of chromosome 9 and its centromere during meiosis I or during one of the postzygotic mitosis. Conflicts of interest The authors have none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.447 141 Study of polymorphism of GCPII gene in neural tube defect Barkha Singh ∗ , S.K. Rai, A.N. Gangopadhyay, R. Singh Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India Neural tube defects (NTDs) are congenital malformations of the central nervous system with a prevalence of 0.5 to 12 per 1000 births globally. A NTD is an opening in the spinal cord or brain that occurs very early in development in 3rd week of pregnancy during gastrulation. An essential nutrient for biological methylation and nucleotide biosynthesis is folate. Deficiency of this folate may lead to severe disease of megaloblastic anaemia and elevates the risk of congenital neural tube defects. Glutamate carboxypeptidase II (GCPII) gene is predominantly expressed in brain, intestinal mucosa and prostate gland respectively. The presence of polymorphism
in this gene known to decrease the folylpoly-␥-glutamate carboxypeptidase (FGCP) activity, thereby impairing the intestinal absorption of folate. To study the association of maternal low vitamin B12 and/or folate levels (and resultant hyperhomocysteinemia) and polymorphisms in specific genes namely: GCP II, MS, MTRR and FOLR 1, with occurrence of NTD’s in the Indian population. The study will also help us in determining the genetics determinants of these vitamin levels and homocysteine. We have done literature survey, collected blood samples and DNA was extracted using salting out method, primer designed for GCP II, run PCR, after that electrophoresis has been done and finally RFLP has been done for analysis of polymorphism of GCPII gene. C1561T (H475Y) polymorphism in GCPII in north Indian population was obtained. H475Y polymorphism is associated with hyperhomocysteinemia leading to neural tube defect. Conflicts of interest The authors have none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.448 142 Roles of VANGL2 in development of planar cell polarity pathway: An essential phenomenon for organogenesis and its disruption may leads to neutral tube defects Sunil Kumar Rai ∗ , Royana Singh Institute of Medical Sciences, Banaras Hindu University Varanasi, Uttar Pradesh, India VANGL2 (vang-gogh like2), a gene known to have role in planar cell polarity signaling during embryonic development which is important for polarized cell movement and organ morphogenesis through activation of cytoskeletal pathways, which has been shown to play numerous roles during neural tube closure. The disrupted function of PCP pathway is connected with NTDs. Mutational analysis for this gene was done in multiethnic cohort of 180 familial and sporadic NTD patients. Two novel rare mutations were identified in 2 cases with positive familial history for NTD, both of them were affected with open forms of NTDs. This suggests that VANGL2 mutations may predispose to NTDs in approximately 1.1% of open NTDs (2 in 180) cases. Our findings implicate VANGL2 in the genetic causation of spinal NTDs in a subset of patients and provide additional evidence for a pathogenic role of PCP signaling in these malformations. Conflicts of interest The authors have none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.449 143 Effect of ibuprofen on retina of adult Swiss albino mice – A light microscopic study Vijay Gujar Department of Anatomy, M.G.I.M.S. Sevagram, Maharashtra, India Ibuprofen is one of the most widely used anti-inflammatory (NSAIDs) drug in world. To find out light microscopic changes on
Abstracts / Journal of the Anatomical Society of India 65S (2016) S98–S142
The present case was a case of Down’s syndrome with Robertsonian translocation t (21; 21) probably arising de novo. Conflicts of interest The author has none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.446 140 Partial trisomy of chromosome 9 with congenital anomalies Preeti Kumari ∗ , Dinesh Kumar Baitha, Sriparna Basu, Royana Singh BHU, Varanasi, Uttar Pradesh, India Chromosomal studies were carried out on the patient’s peripheral blood culture. In addition to routine chromosome analysis, G banding studies were done through trypsin banding method. A case of trisomy for the short arm of chromosome 9 in patient is described, Phenotype shows facial and digital anomalies, with particular emphasis on multiple congenital anomalies including omphalocoele unrupted with liver and gall bladder, microstomia, micro-opthalmia and an additional finger, hydrocephalous, with chief complaint in breathing. The karyotyping results from both parents was karyotyped and both are found to be normal Therefore, the child was trisomic for the region 9p13–pter Following this, the diagnosis was changed to trisomy of the short arm of chromosome 9. With regard to the origin of extra p arm pattern several hypotheses can be made. (1) A disturbance of meiosis I on the paternal or maternal side in which two of the four chromatids of a bivalent 9 are rearranged in such a way that a chromosome is formed interpreted as an isochromosome. This chromosome, together with a normal chromosome 9, would then go to 1 gamete as a result of a faulty distribution. (2) A selective endo reduplication involving the entire short arm of chromosome 9 and its centromere during meiosis I or during one of the postzygotic mitosis. Conflicts of interest The authors have none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.447 141 Study of polymorphism of GCPII gene in neural tube defect Barkha Singh ∗ , S.K. Rai, A.N. Gangopadhyay, R. Singh Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India Neural tube defects (NTDs) are congenital malformations of the central nervous system with a prevalence of 0.5 to 12 per 1000 births globally. A NTD is an opening in the spinal cord or brain that occurs very early in development in 3rd week of pregnancy during gastrulation. An essential nutrient for biological methylation and nucleotide biosynthesis is folate. Deficiency of this folate may lead to severe disease of megaloblastic anaemia and elevates the risk of congenital neural tube defects. Glutamate carboxypeptidase II (GCPII) gene is predominantly expressed in brain, intestinal mucosa and prostate gland respectively. The presence of polymorphism
in this gene known to decrease the folylpoly-␥-glutamate carboxypeptidase (FGCP) activity, thereby impairing the intestinal absorption of folate. To study the association of maternal low vitamin B12 and/or folate levels (and resultant hyperhomocysteinemia) and polymorphisms in specific genes namely: GCP II, MS, MTRR and FOLR 1, with occurrence of NTD’s in the Indian population. The study will also help us in determining the genetics determinants of these vitamin levels and homocysteine. We have done literature survey, collected blood samples and DNA was extracted using salting out method, primer designed for GCP II, run PCR, after that electrophoresis has been done and finally RFLP has been done for analysis of polymorphism of GCPII gene. C1561T (H475Y) polymorphism in GCPII in north Indian population was obtained. H475Y polymorphism is associated with hyperhomocysteinemia leading to neural tube defect. Conflicts of interest The authors have none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.448 142 Roles of VANGL2 in development of planar cell polarity pathway: An essential phenomenon for organogenesis and its disruption may leads to neutral tube defects Sunil Kumar Rai ∗ , Royana Singh Institute of Medical Sciences, Banaras Hindu University Varanasi, Uttar Pradesh, India VANGL2 (vang-gogh like2), a gene known to have role in planar cell polarity signaling during embryonic development which is important for polarized cell movement and organ morphogenesis through activation of cytoskeletal pathways, which has been shown to play numerous roles during neural tube closure. The disrupted function of PCP pathway is connected with NTDs. Mutational analysis for this gene was done in multiethnic cohort of 180 familial and sporadic NTD patients. Two novel rare mutations were identified in 2 cases with positive familial history for NTD, both of them were affected with open forms of NTDs. This suggests that VANGL2 mutations may predispose to NTDs in approximately 1.1% of open NTDs (2 in 180) cases. Our findings implicate VANGL2 in the genetic causation of spinal NTDs in a subset of patients and provide additional evidence for a pathogenic role of PCP signaling in these malformations. Conflicts of interest The authors have none to declare. http://dx.doi.org/10.1016/j.jasi.2016.08.449 143 Effect of ibuprofen on retina of adult Swiss albino mice – A light microscopic study Vijay Gujar Department of Anatomy, M.G.I.M.S. Sevagram, Maharashtra, India Ibuprofen is one of the most widely used anti-inflammatory (NSAIDs) drug in world. To find out light microscopic changes on