| CASE REPORT |
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| Year : 2014 | Volume
: 20
| Issue : 1 | Page : 85-88 |
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Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter
D. K. Chopade1, Harish Harde1, Pallavi Ugale1, Sandesh Chopade2
1 Genetic Health and Research Center, Nashik, India
2 Department of Bio-engineering, Indian Institute of Technology, Kanpur, Uttar Pradesh, India
Correspondence Address:
D. K. Chopade
Genetic Health and Research Center, 7, Mahatmanagar, Near ABB Circle, Triambakeshwar Road, Nashik 422 007
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.132765
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Rearrangements between homologous chromosomes are extremely rare and manifest mainly as monosomic or trisomic offsprings. There are remarkably few reports of balanced homologous chromosomal translocation t (22q; 22q) and only two cases of transmission of this balanced homohologous rearrangement from mother to normal daughter are reported. Robersonian translocation carriers in non-homologous chromosomes have the ability to have an unaffected child. However, it is not possible to have an unaffected child in cases with Robersonian translocations in homologous chromosomes. Carriers of homologous chromosome 22 translocations with maternal uniparental disomy do not have any impact on their phenotype. We are presenting a family with a history of multiple first trimester miscarriages and an unexpected inheritance of balanced homologous translocation of chromosome 22 with paternal uniparental disomy. There are no data available regarding the impact of paternal UPD 22 on the phenotype. We claim this to be the first report explaining that paternal UPD 22 does not impact the phenotype. |
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