Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis 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...

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Autores principales: Chang, Yu-Tzu, Wang, Chung-Hsing, Chou, I-Ching, Lin, Wei-De, Chee, Siew-Yin, Kuo, Huang-Tsung, Tsai, Fuu-Jen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: China Medical University 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264972/
https://www.ncbi.nlm.nih.gov/pubmed/25520920
http://dx.doi.org/10.7603/s40681-014-0007-0
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author Chang, Yu-Tzu
Wang, Chung-Hsing
Chou, I-Ching
Lin, Wei-De
Chee, Siew-Yin
Kuo, Huang-Tsung
Tsai, Fuu-Jen
author_facet Chang, Yu-Tzu
Wang, Chung-Hsing
Chou, I-Ching
Lin, Wei-De
Chee, Siew-Yin
Kuo, Huang-Tsung
Tsai, Fuu-Jen
author_sort Chang, Yu-Tzu
collection PubMed
description 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.
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spelling pubmed-42649722014-12-15 Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB Chang, Yu-Tzu Wang, Chung-Hsing Chou, I-Ching Lin, Wei-De Chee, Siew-Yin Kuo, Huang-Tsung Tsai, Fuu-Jen Biomedicine (Taipei) Original Article 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. China Medical University 2014-08-06 /pmc/articles/PMC4264972/ /pubmed/25520920 http://dx.doi.org/10.7603/s40681-014-0007-0 Text en © China Medical University 2014 https://creativecommons.org/licenses/by/4.0/ Open Access This article is distributed under terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided original author(s) and source are credited.
spellingShingle Original Article
Chang, Yu-Tzu
Wang, Chung-Hsing
Chou, I-Ching
Lin, Wei-De
Chee, Siew-Yin
Kuo, Huang-Tsung
Tsai, Fuu-Jen
Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
title Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
title_full Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
title_fullStr Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
title_full_unstemmed Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
title_short Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
title_sort case report of chromosome 3q25 deletion syndrome or mucopolysaccharidosis iiib
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264972/
https://www.ncbi.nlm.nih.gov/pubmed/25520920
http://dx.doi.org/10.7603/s40681-014-0007-0
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