From: Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
Sl # | Age in years | Sex | Clinical Indication | Karyotype | FISH | FRAX |
---|---|---|---|---|---|---|
1 | 5.25 | M | Autism | 46,XY | Normal ish 7q11.23(ELNX2) | Â |
2 | 7 | M | Autism, FTT, MR, DD | 46,XY | Normal ish 7q11.23(ELNX2) | NRM |
3 | Â | M | Autism | 46,XY | Normal ish 7q11.23(ELNX2) | NRM |
4 | 3.6 | M | Autism, DD, hypocalcemia, cardiac defect, MR | 46,XY | Normal ish 22q11.2(TUPLEx2) | Â |
5 | 6.3 | M | Autism, DD, hypotonia | 46,XY | Normal ish 22q11.2(TUPLEx2) | Â |
6 | 3.5 | M | Autism | not ordered | Normal-ish 22q11.2(TUPLEx2) | Â |
7 | Â | M | Autism | 46,XY | Normal-ish 22q11.2(TUPLEx2) | Â |
8 | Â | M | Autism | 46,XY | Normal-ish 22q11.2(TUPLEx2) | NRM |
9 | 6.5 | M | Autism, DD, MR | 46,XY | Normal, ish 15q12(D15S11x2) | NRM |
10 | 11.6 | M | Autism, DD | 46,XY | Normal, ish 15q12(D15S11x2) | NRM |
11 | 3.5 | M | Autism | 46,XY | Normal, ish 15q12(D15S11x2) | NRM |
12 | 3 | M | Autism | 46,XY | Normal, ish 15q12(D15S11x2) | Â |
13 | 2 | M | Autism, DD,MR | 46,XY | Normal-ish 15q12(D15S11x2) | NRM |
14 | 2.5 | F | Autism, DD,MR | 46,XX | Normal ish 15q12(D15S11) | NRM |
15 | 3.6 | M | Autism, DD, patch hyperpigmentation | 46,XY | Normal, ish 15q12(D15S11x2) | NRM |
16 | 3.5 | M | Autism, DD, seizures | 46,XY | Normal- subtelomere panel | NRM |
17 | 3.5 | F | Autism, DD | 46,XX | Normal-subtelomeres | NRM |
18 | 4.6 | M | Autism, DD | 46,XY | Normal-subtelomeres | NRM |
19 | 8.6 | M | Autism, DD | 46,XY | Normal-subtelomeres | NRM |
20 | Â | M | Autism | 46,XY | Normal-subtelomeres | NRM |
21 | 2.7 | M | Autism | 46,XY | Normal-subtelomeres | ABN |
22 | 16 | M | Autism, DD, dysmorphic features, MR | 46,XY | Normal, subtelomeres Normal, ish 15q12(D15S11x2) | Â |
23 | 17.5 | F | Autism | 46,XX | Normal ish 15q11.2q13(D15S11x2), 17p11.2(SMSx2), 22q11.2(TUPLE1X2) | Â |