Interstitial deletions of the long arm of chromosome 3 have, to our knowledge, been reported in only eleven patients; detailed genotype- phenotype correlations are not well established. Here we describe a case with interstitial deletion involving 3q25.33 region. Dysmorphic features and developmental delay lead to clinical genetic and enzyme assessment. Low alpha-hexosaminidase level is also noted, which imply Mucopolysaccharidosis(MPS) IIIB.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264972 | PMC |
| http://dx.doi.org/10.7603/s40681-014-0007-0 | DOI Listing |
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