Article
Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.
American journal of medical genetics. Part A - 1 Sept 2004
Bedoyan Jirair K, Flore Leigh Anne, Alkatib Aziz, Ebrahim Salah A, Bawle Erawati V
Abstract excerpt
Ring chromosomes are thought to be the result of breakage in both arms of a chromosome, with fusion of the points of fracture and loss of the distal fragments. Another mechanism of ring formation is believed to be the simple fusion of chromosome ends with preservation of telomeric and subtelomeric sequences. Ring chromosome 13 was first described in 1968 and its incidence estimated at 1 in 58,000 live births....
Topics
- Black or African American
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 13
- Developmental Disabilities
- Female
- Humans
- Hyperpigmentation
- In Situ Hybridization, Fluorescence
- Karyotyping
- Pedigree
- Phenotype
- Ring Chromosomes