Abstract
BackgroundExcept for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed.ResultsHere we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. In contrary, array-CGH analysis indicated a small deletion of 11q22.3.DiscussionTo our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in the features described.
Highlights
Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported
Confirmation of the deletion was performed by fluorescent in situ hybridisation (FISH) using BAC probe RP11-56J3
A single red signal can be seen on the normal chromosome 11 and in the nucleus, whereas the signal is absent in the chromosome with the 11q22.3 deletion (Figure 3)
Summary
Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. The terminal deletions that cause Jacobsen syndrome are welldescribed, whereas interstitial aberrations are less welldefined due to the band pattern similarity in this region and limited resolution offered by classical cytogenetic methods [1,2]. A delay in speech and walking are usually present in all cases [1,2,8,10,11] Additional features such as trigonocephaly [10,11], small hands and feet [8,11], syndactyly [1], simian crease [2,10], and others are observed. To the best of our knowledge a case with a deletion limited to 11q22.3 has so far not been reported
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