title: Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.
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.
authors.affiliation: Division of Pediatric Neurology, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan ; China Medical University, Taichung, Taiwan.
authors.forename: Yu-Tzu
authors.initials: YT
authors.lastname: Chang
authors.affiliation: Division of Pediatric Genetics and Metabolism, Children's Medical Center, Taichung, Taiwan ; Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan.
authors.forename: Chung-Hsing
authors.initials: CH
authors.lastname: Wang
authors.affiliation: 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.
authors.forename: I-Ching
authors.initials: IC
authors.lastname: Chou
authors.affiliation: Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.affiliation: Division of Pediatric Genetics and Metabolism, Children's Medical Center, Taichung, Taiwan.
authors.forename: Siew-Yin
authors.initials: SY
authors.lastname: Chee
authors.affiliation: 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.
authors.forename: Huang-Tsung
authors.initials: HT
authors.lastname: Kuo
authors.affiliation: 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.
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
keywords: Chromosome 3q deletion; Mucopolysaccharidosis