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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares