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

Chang YT, Wang CH, Chou IC, Lin WD, Chee SY, Kuo HT, Tsai FJ - Biomedicine (Taipei) (2014)

Bottom Line: 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.Low alpha-hexosaminidase level is also noted, which imply Mucopolysaccharidosis(MPS) IIIB.

View Article: PubMed Central - PubMed

Affiliation: Division of Pediatric Neurology, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan ; China Medical University, Taichung, Taiwan.

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.

No MeSH data available.


Related in: MedlinePlus

Genome-Wide Human SNP Array 6.0 was performed and revealed a deletion at cytoband 3q25.33; physical position 160.277-160.450 Mb about the size of 173 Kb. Her father had the same cytogenic deletion
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Fig2: Genome-Wide Human SNP Array 6.0 was performed and revealed a deletion at cytoband 3q25.33; physical position 160.277-160.450 Mb about the size of 173 Kb. Her father had the same cytogenic deletion

Mentions: Chromosome preparation was performed from peripheral white blood cells, and trypsin-banding Giemsa was applied 550 band resolution. G-banding analysis revealed that the patient had a karyotype of 46, xx, deletion at cytoband 3q25.33 (Fig 2).


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

Chang YT, Wang CH, Chou IC, Lin WD, Chee SY, Kuo HT, Tsai FJ - Biomedicine (Taipei) (2014)

Genome-Wide Human SNP Array 6.0 was performed and revealed a deletion at cytoband 3q25.33; physical position 160.277-160.450 Mb about the size of 173 Kb. Her father had the same cytogenic deletion
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4264972&req=5

Fig2: Genome-Wide Human SNP Array 6.0 was performed and revealed a deletion at cytoband 3q25.33; physical position 160.277-160.450 Mb about the size of 173 Kb. Her father had the same cytogenic deletion
Mentions: Chromosome preparation was performed from peripheral white blood cells, and trypsin-banding Giemsa was applied 550 band resolution. G-banding analysis revealed that the patient had a karyotype of 46, xx, deletion at cytoband 3q25.33 (Fig 2).

Bottom Line: 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.Low alpha-hexosaminidase level is also noted, which imply Mucopolysaccharidosis(MPS) IIIB.

View Article: PubMed Central - PubMed

Affiliation: Division of Pediatric Neurology, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan ; China Medical University, Taichung, Taiwan.

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.

No MeSH data available.


Related in: MedlinePlus