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Mori MA, Gomar JL, Diaz de Bustamante A, et al. Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation. Am J Med Genet. 1987;26(1):203-6doi: 10.1002/ajmg.1320260130.
Mori, M. A., Gomar, J. L., Diaz de Bustamante, A., Ananias, A., Pinel, I., & Martinez-Frias, M. L. (1987). Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation. American journal of medical genetics, 26(1), 203-6. https://doi.org/10.1002/ajmg.1320260130
Mori, M A, et al. "Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation." American journal of medical genetics vol. 26,1 (1987): 203-6. doi: https://doi.org/10.1002/ajmg.1320260130
Mori MA, Gomar JL, Diaz de Bustamante A, Ananias A, Pinel I, Martinez-Frias ML. Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation. Am J Med Genet. 1987 Jan;26(1):203-6. doi: 10.1002/ajmg.1320260130. PMID: 3812563.
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Am J Med Genet. 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.

American journal of medical genetics

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

PMID: 3812563 DOI: 10.1002/ajmg.1320260130

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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