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  • Title: Inherited pericentric inversion of Y-chromosome with trisomy 21. A case report.
    Author: Krishna Murthy DS, Murthy SK, Patel JK, Banker GN, Shah VC.
    Journal: Ann Genet; 1989; 32(1):47-51. PubMed ID: 2526612.
    Abstract:
    A 13-year-old boy with clinical features of Down syndrome was investigated. His karyotype was 47,X,inv(Y),+21. The proband's father and two elder brothers were also found to have the inv(Y). A spontaneous chromatid break was observed in the long arm of the X chromosome[? fra (X)] in 2% of the cells. The mother had two spontaneous abortions. This is the first case of trisomy-21 with inv(Y) in our population. This finding might be fortuitous. The frequency of inv(Y) in Down syndrome is not known.
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