Article
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.
American journal of medical genetics. Part A - 1 Feb 2010
Descipio Cheryl, Morrissette Jennifer D, Conlin Laura K, Clark Dinah, Kaur Maninder, Coplan James, Riethman Harold, Spinner Nancy B, Krantz Ian D
Abstract excerpt
Two brothers, with dissimilar clinical features, were each found to have different abnormalities of chromosome 20 by subtelomere fluorescence in situ hybridization (FISH). The proband had deletion of 20p subtelomere and duplication of 20q subtelomere, while his brother was found to have a duplication of 20p subtelomere and deletion of 20q subtelomere. Parental cytogenetic studies were initially thought to be...
Topics
- Child
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Inversion
- Chromosomes, Artificial, Bacterial
- Chromosomes, Human, Pair 20
- Comparative Genomic Hybridization
- Cosmids
- Family Health
- Female
- Gene Deletion
- Humans