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A child with partial trisomy 4 (q26 – qterminal) resulting from paternally inherited translocation (4:18) associated with multiple congenital anomalies and death
Abhik Chakraborty1, Santosh Kumar Panda2, Nirmal Kumar Mohakud2, Debarshi Roy3, Swatishree Padhi3, Shu Wen Koh4, Manoor Prakash Hande4, Birendranath Banerjee5
1 Molecular Stress and Stem Cell Biology Group, School of Biotechnology, KIIT University, Bhubaneswar, Odisha, India
2 Department of Paediatrics, Kalinga Institute of Medical Sciences, KIIT University, Bhubaneswar, Odisha, India
3 Division of Cytogenetics, inDNA Life Sciences Private Limited, Bhubaneswar, Odisha, India
4 Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
5 Molecular Stress and Stem Cell Biology Group, School of Biotechnology, KIIT University; Division of Cytogenetics, inDNA Life Sciences Private Limited, Bhubaneswar, Odisha, India
Correspondence Address:
Birendranath Banerjee
Molecular Stress and Stem Cell Biology Group, KIIT School of Biotechnology, KIIT University, Bhubaneshwar - 751 024, Odisha
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/genint.genint_4_18
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Parental balanced reciprocal translocations can result in partial aneuploidy in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and cytogenetic characterization in a 9-day-old male child with partial trisomy of chromosome 4. Karyotyping of the proband and parents was performed along with multicolor fluorescence in situ hybridization (mFISH) of paternal chromosomes. Conventional cytogenetic analysis by karyotyping showed 47,XY,der(18),t(4;18)(q26;q22),+4 in proband, and the paternal karyotype was found as 47,XY,der(18),t(4;18)(q26;q22). mFISH analysis on paternal chromosomal preparations confirmed both region and origin of the balanced translocation. In this study, karyotyping helped us to identify both numerical and structural anomalies in the proband, and mFISH helped us to confirm our cytogenetic findings. Therefore, cytogenetic screening of both partners is recommended before pregnancy to rule out or confirm the presence of any numerical or structural anomaly in one, both, or none of the partners.
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