Article
A case with mosaic partial duplication of 1q: prenatal and postmortem clinical and cytogenetic evaluations.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2006
Karaoguz M Yirmibes, Biri A, Pala E, Kan D, Poyraz A, Kurdoglu M, Percin E F
Abstract excerpt
Partial trisomy 1q including different segments of the long arm is a rare cytogenetic anomaly. Especially the cases with mosaic proximal tandem duplication of 1q included a longer fragment are very rare. Cases who have partial 1q trisomy showed large phenotypic variation due to the differences in size of the duplicated segments of 1q. The clinical phenotype of most cases is characterized by multiple congenital...
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