Table 2 The chromosome abnormality found in 3.33 % (14/421) patients with an indication of autism
From: Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
Sl # | Age | Sex | Clinical Indication | Chromosome Result | FISH Result | Fragile X Result |
|---|---|---|---|---|---|---|
| Â | Â | Â | Â | Marker 4/14 = 28% | Â | Â |
1 | 6.1 | M | Autism | 47,XY,+mar[27]/46,XY[3] | .ish der(2)(D2Z+) | NRM |
2 | 5 | F | Autism | 47,XX,+mar | .ish der(15)(D15Z+,D15S11++, GABRB3+) | NT |
3 | 3 | M | Autism | 47,XY,+mar de novo | .ish i(15)(q11.2)(rRNA++,D15Z+,D15S11-) | NT |
4 | 5.1 | F | Autism, MR | mos47,XY,+r[15]/46,XX[15] | .ish der(15)(rRNA+,D15Z+,D15S11+,GABRB3+). | NT |
| Â | Â | Â | Â | Duplication 1/14 = 7% | Â | Â |
5 | 16.75 | F | Autism | 46,XX,dup(15)(q11.2q13)de novo | .ish dup(15)(q12)(D15S11++,GABRB3++)de novo | NT |
| Â | Â | Â | Â | Deletion 4/14 = 28% | Â | Â |
6 | 6.5 | F | Autism, DD, MR, macrocephaly | Â | .ish del(2) (q37.3)(D2S447-) | NT |
7 | 6.6 | F | Autism, DD | 46,XX,del(3)(p25) de novo | Â | NT |
8 | 11.7 | M | Autism, DD, MR, multiple congenital abnormality, h/o DS | 46,XY,del(12)(q21.2q23.3) | .ish 12(wcp12x2) | NRM |
9 | 3.6 | M | Autism | 46,XY,del(13)(q13.2q14.1)de novo | .ish 13q13(D13S6x2),13q14(RBx2) | NT |
| Â | Â | Â | Â | Inversion 3/14 = 21% | Â | Â |
10 | 2.8 | F | Autism | 46,XX,inv(10)(p11.2q21.2)* | NT | NRM |
11 | 3.5 | M | Autism | Mos46,XY,inv(14)(q11.2q33)[3]/46,XY[17]* | NT | NRM |
12 | 3.25 | M | Autism, hypotonia, DD | 46,XY,add(17)(q23) or inv(17)(q23q25)de novo | .ish inv(17)(q24.2q25.3)(wcp17x2,MPOx2,D17S928x2) | NT |
| Â | Â | Â | Â | Translocation 2/14 = 14% | Â | Â |
13 | 2.7 | F | Autism | 46,XX,t(1;14)(q25;q31.2) | NT | NT |
14 | 3.3 | M | Autism | 46,XY,der(14;18)(q10;q10) | NT | NRM |