Table 4

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

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


DD = developmental delay, NT = not tested

Reddy BMC Medical Genetics 2005 6:3   doi:10.1186/1471-2350-6-3

Open Data