Skip to main content

Advertisement

Table 3 Summary of FISH cases

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)  
2 7 M Autism, FTT, MR, DD 46,XY Normal ish 7q11.23(ELNX2) NRM
3   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)  
5 6.3 M Autism, DD, hypotonia 46,XY Normal ish 22q11.2(TUPLEx2)  
6 3.5 M Autism not ordered Normal-ish 22q11.2(TUPLEx2)  
7   M Autism 46,XY Normal-ish 22q11.2(TUPLEx2)  
8   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)  
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   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)  
23 17.5 F Autism 46,XX Normal ish 15q11.2q13(D15S11x2), 17p11.2(SMSx2), 22q11.2(TUPLE1X2)  
  1. M = male, F = female, NRM = normal, ABN = abnormal, DD = development delay, MR = mental retardation, FTT = failure to thrive.