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Case Reports
. 1981;57(1):71-4.
doi: 10.1007/BF00271171.

Duplication deficiency as the result of meiotic segregation of a maternal InV (10)

Case Reports

Duplication deficiency as the result of meiotic segregation of a maternal InV (10)

E Yunis et al. Hum Genet. 1981.

Abstract

In a family a large pericentric inversion involving nearly 70% of the chromosome 10 has been segregating during three generations, giving several carriers and an affected male with the karyotype 46,XY,der(10)(10pter Leads to 10q25::10p12 Leads to 10pter)mat. The patient is trisomic for 10p except for a small segment near the centromere, and monosomic for the distal 10q26. A simple diagrammatic representation explains the behavior of the inv(10) in meiosis. The study of meiotic segregation in the present case, and the reviews of previously reported duplication-deficiencies, agree with established postulates and add some principles to the understanding of duplication deficiencies resulting from the meiotic behavior of inverted chromosomes.

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References

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