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 |
|---|---|---|---|---|---|---|---|
| Â | Â | Â | Â | Full mutation 3/7= 43% | Â | Â | Â |
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 |
| Â | Â | Â | Â | Mosaic mutation 3/7 = 43% | Â | Â | Â |
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 |
| Â | Â | Â | Â | Mosaic Premutation carrier 1/7 = 14% | Â | Â | Â |
7 | 6 | F | Autism | ABN- premutation mosaic [29,65,80,39(light band)r] | Â | 46,XX | NT |
|  | Av 4.36 years | 2F, 5M |  | Intermediate mutation    7 cases with 45–54r |  |  |  |