Original article

BioMedicine

, 4:7

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB

  • Yu-Tzu ChangAffiliated withDivision of Pediatric Neurology, Children’s Medical Center, China Medical University HospitalChina Medical University
  • , Chung-Hsing WangAffiliated withDivision of Pediatric Genetics and Metabolism, Children’s Medical CenterGraduate Institute of Clinical Medical Science, China Medical University
  • , I-Ching ChouAffiliated withDivision of Pediatric Neurology, Children’s Medical Center, China Medical University HospitalGraduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University
  • , Wei-De LinAffiliated withDepartment of Medical Research, China Medical University HospitalSchool of Post Baccalaureate Chinese Medicine, China Medical University
  • , Siew-Yin CheeAffiliated withDivision of Pediatric Genetics and Metabolism, Children’s Medical Center
  • , Huang-Tsung KuoAffiliated withDivision of Pediatric Neurology, Children’s Medical Center, China Medical University HospitalDivision of Children’s Development and Behavior, Children’s Medical Center, China Medical University Hospital
  • , Fuu-Jen TsaiAffiliated withDepartment of Medical Research, China Medical University HospitalSchool of Chinese Medicine, China Medical UniversityDepartment of Medical Genetics, China Medical University HospitalDepartment of Health and Nutrition Biotechnology, Asia University Email author 

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