Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.
Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.
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DOI：
10.7603/s40681-014-0007-0
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Tsai FJ
中科院分区：
文献类型：
--
作者：
Chang YT;Wang CH;Chou IC;Lin WD;Chee SY;Kuo HT;Tsai FJ
据我们所知，只有11例患者报告了3号染色体长臂的间质性缺失;详细的基因型-表型相关性尚未完全确定。在这里，我们描述了一个涉及3q25.33区域的间质缺失的情况。畸形特征和发育迟缓导致临床遗传和酶评估。还观察到低α-氨基己糖苷酶水平，这意味着粘多糖沉积症（MPS）IIIB。
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.