First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. [electronic resource]
Producer: 20060727Description: 225-34 p. digitalISSN:- 1769-7212
- 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
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Publication Type: Case Reports; Journal Article
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