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Case Reports
. 1978;1(3):271-7.
doi: 10.1002/ajmg.1320010303.

Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation

N R Dennis, R L Neu, R M Bannerman
Case Reports

Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation

N R Dennis et al. Am J Med Genet. 1978.

Abstract

An 18 month-old boy with partial duplication of the long arm of chromosome 2, based on a paternal balanced translocation, 46,XY,ins (12,2)( q23;q33q37), is described and compared with five previously reported cases. These children have in common a short nose with broad flat bridge and small anteverted nostrils, long upper lip, low-set ears, and minor digital anomalies.

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