Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

Yu-Tzu Chang; Chung-Hsing Wang; I-Ching Chou; Wei-De Lin; Siew-Yin Chee; Huang-Tsung Kuo; Fuu-Jen Tsai

doi:10.7603/s40681-014-0007-0

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

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

Authors

Yu-Tzu Chang¹, Chung-Hsing Wang², I-Ching Chou³, Wei-De Lin⁴, Siew-Yin Chee⁵, Huang-Tsung Kuo⁶, Fuu-Jen Tsai⁷

Affiliations

¹ Division of Pediatric Neurology, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan ; China Medical University, Taichung, Taiwan.
² Division of Pediatric Genetics and Metabolism, Children's Medical Center, Taichung, Taiwan ; Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan.
³ Division of Pediatric Neurology, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan ; Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan.
⁴ Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.
⁵ Division of Pediatric Genetics and Metabolism, Children's Medical Center, Taichung, Taiwan.
⁶ Division of Pediatric Neurology, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan ; Division of Children's Development and Behavior, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan.
⁷ Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; School of Chinese Medicine, China Medical University, Taichung, Taiwan ; Department of Medical Genetics, China Medical University Hospital, Number 2, Yuh-Der Road, Taichung, Taiwan ; Department of Health and Nutrition Biotechnology, Asia University, Taichung, Taiwan.

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.