3q25染色体缺失综合征或黏多糖贮积症IIIB的病例报告。
Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.
作者信息
Chang Yu-Tzu, Wang Chung-Hsing, Chou I-Ching, Lin Wei-De, Chee Siew-Yin, Kuo Huang-Tsung, Tsai Fuu-Jen
机构信息
Division of Pediatric Neurology, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan ; China Medical University, Taichung, Taiwan.
Division of Pediatric Genetics and Metabolism, Children's Medical Center, Taichung, Taiwan ; Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan.
出版信息
Biomedicine (Taipei). 2014;4(1):7. doi: 10.7603/s40681-014-0007-0. Epub 2014 Aug 6.
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.
据我们所知，3号染色体长臂的间质缺失仅在11例患者中被报道；详细的基因型-表型相关性尚未明确建立。在此，我们描述了一例涉及3q25.33区域间质缺失的病例。畸形特征和发育迟缓促使进行临床遗传学和酶学评估。还注意到α-己糖胺酶水平较低，这提示黏多糖贮积症（MPS）IIIB型。
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