Article
Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype.
American journal of medical genetics - 15 Nov 1993
Lopez-Rangel E, Dill F J, Hrynchak M A, Van Allen M I
Abstract excerpt
Partial duplications of chromosome 3 have previously been reported to have phenotypic characteristics similar to Brachmann-de Lange syndrome (BDLS). We present the case of a 13-year-old girl with an apparent duplication in the 3q25.1-->q26.1 region but none of the manifestations commonly seen in...
Topics
- Adolescent
- Chromosome Aberrations
- Chromosome Banding
- Chromosomes, Human, Pair 3
- De Lange Syndrome
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Phenotype
