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+44 28 3718 0055Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Kumari P Author
Subjects of specialization
Affiliation
Somatostatin receptor
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad, India
Biography
Mr. Kumari P, belongs to the department of Obstetrics and Gynecology, interest in the field of Spinal muscular atrophy; SMN1 gene; Homozygous point mutation, from Institute of Transplantation Sciences (IKDRCITS), Civil Hospital Campus, Asarwa, Ahmedabad, India
Publications
Case Report Subscription
Inherited Unbalanced Chromosome from Parent with Balanced Translocation: A Case Report and Review of Literature
Author(s): Kumari P, Mishra VV and Tewari S
Reciprocal translocations are common, and the translocation heterozygote (carrier) may have a risk to have a child who would be mentally and physically abnormal due to a segmental aneusomy. The carriers of balanced translocation mostly do not have recognizable phenotypic expression, however, they can produce unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. We describe a 4-year-old boy with partial 10q trisomy and distal 13qmonosomy. The patient presented with delayed milestones, dysmorphic face, congenital heart defect, renal and skeletal anomalies. The conventional cytogenetic analysis showed a 46,XY, add(13q) karyotype. The child inherited the unbalanced chromosome from moth... view more»
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