Tetrasomy 15q: Two marker chromosomes with no detectable alpha-satellite DNA
- Karolinska Hospital, Stockholm (Sweden)
- Univ. of Cambridge, MA (United States)
- Central Hospital, Helsingborg (Sweden)
Two patients with specific and similar phenotypes were both found to have an unusual marker chromosome present in 70%-80% of their lymphocytes at routine cytogenetic examination. The marker chromosomes were isolated by flow sorting and were amplified by degenerate oligonucleotide-primed PCR. These libraries and a cosmid probe located at 15q26 were used to characterize the marker chromosomes by FISH. Both marker chromosomes were found to consist of duplicated chromosome material from the distal part of chromosome 15q and were identified as inv dup(15) (qter[yields]q23::q23[yields]qter) and inv dup(15) (qter[yields]q24[yields]qter), respectively. Hence, the markers did not include any known centromere region, and no alpha-satellite DNA could be detected at the site of the primary construction. Tetrasomy 15q may be a new syndrome, associated with a specific type of marker chromosome. In addition, further analysis of this type of marker chromosome might give new insight into the structure and function of the mammalian centromere. 29 refs., 4 figs., 1 tab.
- OSTI ID:
- 6975039
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 54:5; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6)
Construction of a DNA library representing 15q11-13 by subtraction of two flow sorted marker chromosome-specific libraries