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Case Reports
. 1987 Jan;26(1):203-6.
doi: 10.1002/ajmg.1320260130.

Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation

M A Mori, J L Gomar, A Diaz de Bustamante, A Ananias, I Pinel, M L Martinez-Frias
Case Reports

Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation

M A Mori et al. Am J Med Genet. 1987 Jan.

Abstract

We report on a male infant with a duplication 9p (pter----q13) and duplication 16p (p13----pter) resulting from a 3:1 meiotic disjunction of a maternal reciprocal translocation. In this case, the mode of segregation fits to the Pachytene-Diagram Model of Jalbert et al [1980]. The infant showed clinical features that have been described both in dup(16p) and in dup(9p). To our knowledge, this is the first time that this unbalanced karyotype has been reported.

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