A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: Activation of a latent centromere
- Royal Children's Hospital, Parkville (Australia)
The authors report the investigation of an unusual human supernumerary marker chromosome 10 designated [open quotes]mar del(10)[close quotes]. This marker is present together with two other marker chromosomes in the karyotype of a boy with mild developmental delay. It has a functional centromere at a primary constriction and is mitotically stable. Fluorescence in situ hybridization (FISH) using alpha-satellite and satellite III DNA as probes failed to detect any signal at the primary constriction site. CENP-B protein could not be demonstrated, although the presence of at least some centromeric proteins was confirmed using a CREST antiserum. Consideration of these and other cytogenetic and Fish results supports a mechanism of formation of the mar del(10) chromosome involving the activation of a latent intercalary centromere at 10q25. 33 refs., 6 figs.
- OSTI ID:
- 6310291
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:6; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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