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Case Reports
. 1988 Dec;31(4):981-5.
doi: 10.1002/ajmg.1320310433.

Duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation

K Kausch  1 , T Haaf, M Schmid
Affiliations
Case Reports

Duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation

K Kausch et al. Am J Med Genet. 1988 Dec.

Abstract

We report on a 16-year-old female with duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 segregation of a maternal balanced reciprocal translocation. This mode of unbalanced segregation could be predicted from Pachytene-diagram drawing. Most of her clinical manifestations can be related to the proximal 15q trisomy. To our knowledge there is only one previous report of a similar chromosome constitution.

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