Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 8733051.
- Also identified by PMC identifier 1050610.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We present a case with a small extra ring chromosome which was found in 66% of lymphocytes on routine cytogenetic examination. FISH analyses, using centromere specific and single copy probes, showed that the extra ring chromosome was derived from the most proximal part of 10p, close to the centromere. The patient has a unilateral cleft lip and palate, mild dysmorphic features, and mild mental retardation. Only a limited number of extra ring chromosomes have been characterised so far. To our knowledge, this is the first reported patient with an extra ring chromosome derived from chromosome 10p.
Medical subject headings
- Abnormalities, Multiple
- Chromosomes, Human, Pair 10
- Ring Chromosomes