Table 1.
Karyotypes and Mode of Ascertainment of included cases
| Case | Karyotype | Ascertainment | Inheritance | Phenotype Summary |
|---|---|---|---|---|
| 31-05E | 46,XY,t(14;22)(q24;q12) | Recurrent miscarriages | n.i. | Healthy |
| 862-06Ö | 46,XX,t(16;22)(p11;q13.1) | Parent of a 46,XX,der(22)t(16;22)(p11;q13.1) miscarriage | Paternal | Healthy |
| 106-06Ö | 46,XX,t(4;7)(q25;q22) | Recurrent miscarriages | n.i. | Healthy |
| 58-06Ö | 46,XY,t(3;12)(q23;q21) | Recurrent miscarriages | n.i. | Healthy |
| 157-06Ö | 46,XX,t(4;7)(q21;p15) | Recurrent miscarriages | Maternal | Healthy |
| 191-06Ö | 46,XY,t(2;3)(p13;p25) | Recurrent miscarriages | Mother not carrier; Father not tested |
Healthy |
| 263-06Ö | 46,XX,t(10;11)(q22;p15) | Recurrent miscarriages | Father not carrier; Mother not tested |
Healthy |
| 175-06Ö | 46,XX,t(10;15)(q23;q15) | Parent of a 46,XY,der(10)t(10;15)(q23;q15) miscarriage | Paternal | Healthy |
| 872-05Ö | 46,XX,t(1;8)(p22;q24), t(5;18)(p15;q11) |
Amniocentesis because of previously stillborn child | Maternal | Proband: Reading difficulties Mother: Reading difficulties |
| 887-05Ö | 46,XX,t(5;7)(q14;q34) | Amniocentesis because of advanced maternal age | Maternal | Proband: ADHD and Reading difficulties Mother: Reading difficulties |
| 109-06Ö | 46,XY,t(2;6)(q34;q21)dn | Affected phenotype | de novo | Autism, Epilepsy |
| 232-07F | 46,XY,t(3;7)(p33;p12) | Affected phenotype | Paternal | Proband: Mild ID, Autistic traits Father: Speech delay |
| 851-06Ö | 46,X,t(X;17)(p22.1;p13) | Affected phenotype | Maternal | Proband: Epilepsy, psychatric illness Mother: Epilepsy, psychatric illness |
| 8480THO | 46,XY,t(2;9)(q37.3;q32)dn | Affected phenotype | de novo | Autistic features, Epilepsy |
| 841-95D | 46,XY,t(2;21)(p13;p11.2)dn | Affected phenotype | de novo | Autism, ADHD |
| 155-90D | 46,XX,t(2;13)(q24;q33) | Affected phenotype | Mother not carrier; Father not tested |
XX male, tics, Tourettes |
| 2644-07D | 46,XY,t(4;8)(q21;q13)dn | Affected phenotype | de novo | DD, Autism, ADHD |
| 2587-07D | 46,XY,t(1;2)(q42;q31)dn | Affected phenotype | de novo | Vertebral anomaly |
| 2-03E | 46,XX,t(6;8)(q23;q24)dn | Affected phenotype | de novo | DD, Epilepsy |
| 337-01D | 46,XX,t(3;12)(q26.1;p11.2)dn | Affected phenotype | de novo | ID, Autism, Epilepsy |
| 782-95D | 46,XY,t(10;12)(q24;q13)dn | Affected phenotype | de novo | DD |
| 29-03E | 46,XY,t(9;16)(p21;q21)dn | Affected phenotype | de novo | Obesity, ID |
ADHD, Attention Deficit Hyperactivity Disorder; ID, Intellectual disability; DD, Developmental Delay