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. 2014;4(1):7.
doi: 10.7603/s40681-014-0007-0. Epub 2014 Aug 6.

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

Yu-Tzu Chang  1 , Chung-Hsing Wang  2 , I-Ching Chou  3 , Wei-De Lin  4 , Siew-Yin Chee  5 , Huang-Tsung Kuo  6 , Fuu-Jen Tsai  7
Affiliations

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

Yu-Tzu Chang et al. Biomedicine (Taipei). 2014.

Abstract

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.

Keywords: Chromosome 3q deletion; Mucopolysaccharidosis.

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Figures

Figure 1A&B:
Figure 1A&B:
This 11 year-old girl with (A) coarse face, hirsutism, hypertelorism, synophrys, bilateral mild epicanthic folds, broad and flat nasal bridge. (B) low set, posterior rotated and mild dysplastic ear.
Figure 1A&B:
Figure 1A&B:
This 11 year-old girl with (A) coarse face, hirsutism, hypertelorism, synophrys, bilateral mild epicanthic folds, broad and flat nasal bridge. (B) low set, posterior rotated and mild dysplastic ear.
Figure 2
Figure 2
Genome-Wide Human SNP Array 6.0 was performed and revealed a deletion at cytoband 3q25.33; physical position 160.277-160.450 Mb about the size of 173 Kb. Her father had the same cytogenic deletion
See this image and copyright information in PMC

References

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