Table 2

The chromosome abnormality found in 3.33 % (14/421) patients with an indication of autism

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


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

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

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