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Table 4 The details of Fragile X mutations found in 2.2 % (7/316) patients with a clinical indication of autism

From: Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

Sl # Age In years Sex Clinical indication FRAXA Result Methylation Chrom Result FISH Result
     Full mutation 3/7= 43%    
1 4.5 M Autism ABN-Full mutation (400,533,667repeats [r]) abnormal methylation 46,XY NT
2 5 M Autism ABN-Full mutation (600–1100 r) abnormal methylation 46,XY NT
3 4.5 M Autism, DD ABN- Full mutation (267–933 r), abnormal methylation 46,XY NT
     Mosaic mutation 3/7 = 43%    
4 2.3 M Autism ABN-size mosaic Full mutation [800 r]/ premutation [155 r] Normal & abnormal methylation 46,XY NT
5 1.7 M Autism ABN-size mosaic Full mutation [400 r]/ premutation [150 r] Normal & abnormal methylation 46,XY Normal-sub tel
6 8.5 M Autism, DD ABN-mosaic Full mutation [200–900 r]/ deletion mutation [30 r], partial methylation 46,XY NT
     Mosaic Premutation carrier 1/7 = 14%    
7 6 F Autism ABN- premutation mosaic [29,65,80,39(light band)r]   46,XX NT
  Av 4.36 years 2F, 5M   Intermediate mutation    7 cases with 45–54r    
  1. DD = developmental delay, NT = not tested