First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.

Gamerdinger, Ulrike

First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. [electronic resource] - European journal of medical genetics - 225-34 p. digital

Publication Type: Case Reports; Journal Article

1769-7212

10.1016/j.ejmg.2005.07.002 doi


Chromosome Disorders--diagnosis
Chromosomes, Human, Pair 3--genetics
Cytogenetic Analysis
Face--abnormalities
Gene Duplication
Hip Dislocation, Congenital--genetics
Humans
In Situ Hybridization, Fluorescence
Infant
Intellectual Disability--genetics
Karyotyping
Male
Microsatellite Repeats
Phenotype
Trisomy