Table 2 Detailed clinical features of all ten probands with chromosomal abnormalities
Case/Gender | Age (Y) | Diagnosis | Cognition | Family History | Karyotype and FISH (ISCN) | P343 MLPA panel (ISCN) | ME028 MLPA panel (ISCN) | Abnormality origin |
|---|---|---|---|---|---|---|---|---|
I/M | 17 | ADI-R/ADOS + CARS: 44,5 Severe Autism | Severe/Profound Intellectual Disability (QIG:29)a | Brother has autism | 46,XY.ish dup(15)(q11.2 q11.2)(SNRPN++,UBE3A++) | rsa15q11.2-q13.1(SNRPN,UBE3A,ATP10A,GABRB3, OCA2)x3 | - | Mother normal Father unavailable |
II/M | 6 | ADI-R/ADOS + Severe Autism | Mild Intellectual Disability (QDG:54)b | Adopted Biological Mother has Depressive Disorder | 46,XY | rsa 15q11.2-q13.1(SNRPN,UBE3A,ATP10A,GABRB3, OCA2)x3 | - | unavailable |
III/M | 6 | ADI-R/ADOS + CARS: 35 Mild Autism | No Intellectual Disability (QDG: 102)b | Father has drug addiction Brother has social disability | 46,XY | rsa(P343)x2 | rsa 15q11.2(NIPA1,TUBGCP5)x3mat | Mother |
IV/M | 12 | ADI-R/ADOS + CARS: 30 Mild Autism | Mild Intellectual Disabilty (QDG:58)b | Paternal grandfather has schizophrenia Maternal grandmother is alcoholic Paternal Uncle has drug addiction | mos 47,XY,+r.ish r(15)(D15Z4+,SNRPN-,UBE3A-)[69]/r(15)(D15Z4++,SNRPN-,UBE3A-)[2]/46,XY[105] | rsa(P343)x2 | rsa 15q11.2(NIPA1,TUBGCP5,MKRN3, MAGEL2,NDN)X3mat | Mother |
V/F | 9 | ADI-R/ADOS + CARS: 37 Moderate Autism | Mild/Moderate Intellectual Disability (QDG:39)b | Irrelevant | 46,XX,dup(15)(q11.2q11.2)(SNRPN++,D15S10++) | rsa 15q11.2-q13.1(SNRPN,UBE3A,ATP10A,GABRB3, OCA2)x4 | - | unavailable |
VI/F | 10 | ADI-R/ADOS + CARS: 32 Mild Autism | Severe/profound Intellectual Disability (QDG:29)b | Irrelevant | 46,XX,add(15)(q11.2).ish trp(15)(q11.2)(SNRPN,UBE3A)x4 | rsa 15q11.2-q13.1(SNRPN,UBE3A,ATP10A,GABRB3, OCA2,APBA2,NDNL2,TJP1)x4dn | - | de novo |
VII/M | 7 | ADI-R/ADOS + Mild Autism | No intellectual Disability (QDG: 97)b | Irrelevant | 46,XY | rsa(P343)x2 | rsa 15q11.2(NIPA1, TUBGCP5)x1 | unavailable |
VIII/M | 8 | ADI-R/ADOS + CARS: 30 Mild Autism | Intellectual Disability (QDG:71)b | Mother has learning difficulties | 46,XY | rsa(P343)x2 | rsa 15q11.2(NIPA1, TUBGCP5)x1mat | Mother |
IX/M | 14 | ADI-R/ADOS + CARS: 30 Mild Autism | Mild Intellectual Disability (QDG:61)b | Father has chromosomal abnormalities but no clinical issues Paternal grandmother has Depressive Disorder | 46,XY | rsa 15q13.2-q13.3(MTMR15,TRPM, KLF13,CHRNA7)x1pat | - | Father |
X/M | 5 | ADI-R/ADOS + CARS: 31 Mild Autism | No intellectual Disability (QDG:99) | Irrelevant | 46,XY | rsa 22q13.33(SHANK3)x3mat | - | Mother |