Article
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
American journal of medical genetics. Part A - 1 Mar 2014
Goh Elaine Suk-Ying, Banwell Brenda, Stavropoulos Dimitri James, Shago Mary, Yoon Grace
Abstract excerpt
We report on a girl with a de novo mosaic derivative chromosome 17 involving a 7.4 Mb deletion of chromosome region 17p11.2 to 17p12 and a duplication of a 12.35 Mb region at 17q22 to 17q24. She was ascertained because of developmental delay, peripheral neuropathy, brachydactyly and minor anomalies. The derivative chromosome was present in approximately 12% of lymphocytes based on FISH studies, and was detected...
Topics
- Adolescent
- Chromosome Banding
- Chromosome Deletion
- Chromosome Duplication
- Chromosomes, Human, Pair 17
- Comparative Genomic Hybridization
- Facies
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Mosaicism
- Peripheral Nervous System Diseases