Article
Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.
American journal of medical genetics. Part A - 1 Aug 2014
Starr Lois J, Truemper Edward J, Pickering Diane L, Sanger Warren G, Olney Ann Haskins
Abstract excerpt
Duplications of the terminal long arm of chromosome 20 are rare chromosomal anomalies. We report a male infant found on array comparative genomic hybridization analysis to have a 19.5 Mb duplication of chromosome 20q13.12-13.33, as well as an 886 kb deletion of 20p13 at 18,580-904,299 bp. This anomaly occurred as the recombinant product of a paternal pericentric inversion. There have been 23 reported clinical...
Topics
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosome Duplication
- Chromosome Inversion
- Chromosome Mapping
- Chromosomes, Human, Pair 20
- Comparative Genomic Hybridization
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Phenotype