Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. [electronic resource]
Producer: 20080118Description: 158-64 p. digitalISSN:- 1424-859X
- Adult
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 17 -- genetics
- Chromosomes, Human, Pair 7 -- genetics
- Cytogenetics
- Female
- Gene Duplication
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Male
- Neurofibromatoses -- genetics
- Oligonucleotide Array Sequence Analysis
- Telomere -- classification
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Publication Type: Case Reports; Journal Article
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