Article
Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.
American journal of medical genetics. Part A - 1 Sept 2005
Grange Dorothy K, Garcia-Heras Jaime, Kilani Ramzi A, Lamp Stephen
Abstract excerpt
We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our...
Topics
- Abnormalities, Multiple
- Chromosome Banding
- Chromosome Inversion
- Chromosomes, Human, Pair 20
- Fathers
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Karyotyping