Inherited Unbalanced Chromosome from Parent with Balanced Translocation| Chapter 5 | Issues and Developments in Medicine and Medical Research Vol.10

 Reciprocal translocations are prevalent, and as a result of a segmental aneusomy, the translocation heterozygote (carrier) may have a kid who is intellectually and physically aberrant. Balanced translocation carriers usually have no phenotypic expression; nonetheless, they can produce an imbalanced chromosome, which is handed down to the next generation via gametes carrying the derived chromosome. A 4-year-old kid with partial 10q trisomy and distal 13qmonosomy is presented. The patient had a dysmorphic face, a congenital heart abnormality, and renal and skeletal defects, as well as delayed milestones. The karyotype was 46,XY, add(13q) according to standard cytogenetic analysis. The imbalanced chromosome was inherited from the mother, who was a carrier of balanced reciprocal translocation, t(10;13) (p24.2;q33.1). Our patient's phenotype was produced by a combination of abnormalities previously identified in isolated dup(10q) and distal del(13q) syndromes, but it predominantly resembled children with distal trisomy 10q syndrome. Our findings indicate the role of crucial areas like 10q24 and 13q32 in the phenotypic expression of distal 10q trisomy syndrome and distal 13q trisomy syndrome, respectively, according to prior study. For better management of chromosomally imbalanced children, general practitioners and families must be made aware of such chromosomal imbalances and their repercussions.

Author(s) Details:

Dr. P. Kumari,
 Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC- ITS), Civil Hospital Campus, Asarwa, Ahmedabad, India.

V. V. Mishra,
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC- ITS), Civil Hospital Campus, Asarwa, Ahmedabad, India.

S. Tewari,
Scientific Pathology, Polaris Neurosciences Hospital, Agra, India.

Please see the link here: https://stm.bookpi.org/IDMMR-V10/article/view/5816