Article
Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss.
American journal of medical genetics - 13 Apr 1998
Keppler-Noreuil K M, Carroll A J, Finley S C, Descartes M, Cody J D, DuPont B R, Gay C T, Leach R J
Abstract excerpt
We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv(18)(q21.1q23). The child had findings in common with those seen in 18q- syndrome including: microcephaly, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whor...
Topics
- Adult
- Centromere
- Chromosome Inversion
- Chromosomes, Human, Pair 18
- Female
- Genotype
- Hearing Loss, Bilateral
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Intellectual Disability
- Leukocytes