|
Summary of FISH cases |
||||||
| 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) |
|
|
M = male, F = female, NRM = normal, ABN = abnormal, DD = development delay, MR = mental retardation, FTT = failure to thrive. | ||||||
Reddy BMC Medical Genetics 2005 6:3 doi:10.1186/1471-2350-6-3 |
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