Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.
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.
Blennow
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Department of Molecular medicine, Karolinska Institutet, Stockholm, Sweden.
Tillberg
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D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002879:Chromosomes, Human, Pair 10; D002971:Cleft Lip / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012303:Ring Chromosomes