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