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. 1995 Jul;32(7):564–567. doi: 10.1136/jmg.32.7.564

Molecular analysis of three patients with interstitial deletions of chromosome band 14q31.

B C Byth 1, M T Costa 1, I E Teshima 1, W G Wilson 1, N P Carter 1, D W Cox 1
PMCID: PMC1050554  PMID: 7562974

Abstract

Two patients and one three generation family with interstitial deletions of distal chromosome band 14q31 are described. The deletions were initially identified by chromosome analysis; we have used highly informative simple sequence repeat polymorphisms to define the deletions at the molecular level. This analysis also establishes the parental origin of the deleted chromosome. One of the patients was initially described as having a terminal deletion of chromosome 14 from 14q31 to 14qter; we show here that this child has instead an interstitial deletion of band 14q31. The smallest deletion involves a single anonymous DNA marker and is associated with an almost normal phenotype. The two patients with larger deletions have phenotypes similar to those seen in previously described cases of interstitial deletions of chromosome 14, including minor dysmorphic features and developmental delay. Delineation of these deletions allows the ordering of markers within the 14q31 region, in which the gene for the degenerative neurological disorder Machado-Joseph disease is localised.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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