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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
     Marker 4/14 = 28%   
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
     Duplication 1/14 = 7%   
5 16.75 F Autism 46,XX,dup(15)(q11.2q13)de novo .ish dup(15)(q12)(D15S11++,GABRB3++)de novo NT
     Deletion 4/14 = 28%   
6 6.5 F Autism, DD, MR, macrocephaly   .ish del(2) (q37.3)(D2S447-) NT
7 6.6 F Autism, DD 46,XX,del(3)(p25) de novo   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
     Inversion 3/14 = 21%   
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
     Translocation 2/14 = 14%   
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
  1. DD = developmental delay, MR = mental retardation, DS = Down syndrome, NT = not tested NRM = normal *inv(10) is a normal familial variant and inv(14) is a frequently observed artifact of culture