Article
A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings.
American journal of human genetics - 1 Jan 1995
Wagstaff J, Hemann M
Abstract excerpt
A child with phenotypic features of the 9p- syndrome, including metopic craniosynostosis, small ears, abdominal wall defect, and mental retardation, as well as hypopigmentation, was found to have a cytogenetically balanced 3;9 translocation, with breakpoints at 3p11 and 9p23, inherited from his p...
Topics
- Abdominal Muscles
- Abnormalities, Multiple
- Adult
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 3
- Chromosomes, Human, Pair 9
- Craniosynostoses
- Face
- Female
- Heterozygote
- Humans
- Hypopigmentation
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Intellectual Disability
- Kidney
- Male