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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.