Apparently balanced chromosomal rearrangements with a phenotypic impact in the patients
| Patient | Karyotype | Phenotype summary | Mechanism | Gene | OMIM phenotype | Classification |
| IS/0101 | t(9;17)(p13;q21) | ID, growth retardation, FD | Disruption | KANSL1 | Koolen de Vries syndrome (610 443) | Pathogenic |
| IL/1901 | der(3)inv(3)(p13;p22)inv(3)(p12;q26.3) | ID, speech delay, cleft palate | Disruption | FOXP1 | MR with language impairment (613 670) | Pathogenic |
| VJ/0601 | t(4;14)(p15;q32.1) | ID, speech delay, ASD, FD | PE | BCL11B | IDD and T-cell abnormalities (618 092) | Likely pathogenic |
| CS/1002 | ins(15;12) (q15 or q21;q24.1q24.2) | ID, macrocephaly, FD, café-au-lait spots | Disruption | SPRED1 | Legius syndrome (611 431) | Pathogenic |
| CL/2001 | t(11;15)(p14;q14) | ID, absent speech, epilepsy, FD, CHD, larynx malposition, | Disruption | MEIS2 | Cleft palate, cardiac defect, MR (600 987) | Pathogenic |
| SL/0105 | inv(2)(p12q22) | ID, microcephaly, behavioural troubles, epilepsy, ataxia | Disruption | MBD5 | MR (156 200) | Pathogenic |
| EB/0401 | ins(5)(q15q23.3q34) | ID, growth retardation, microcephaly, epilepsy | PE | MEF2C | MR (613 443) | Likely pathogenic |
| CG/0106 | t(X;13;15)(p21;q22;q22),t(6;11)(q21;q24) | ID, absent speech, attention deficit, muscular dystrophy | Disruption | DMD | Duchenne muscular dystrophy (310 200) | Pathogenic |
| MH/1103 | inv(2)(q22;q32.3) | ID, speech delay, epilepsy | Disruption | MBD5 | MR (156 200) | Pathogenic |
| JP/0107 | t(4;17)(q27;q23) | Overweight, learning difficulties, attention disorder, FD | Disruption | TLK2 | MR (618 050) | Pathogenic |
| CS/1902 | t(4;14)(q31.1;q32.2) | Learning difficulties, speech delay, psychiatric disorders, FD | PE | BCL11B | IDD and T-cell abnormalities (618 092) | Likely pathogenic |
| OL/2202 | t(1;14)(q32;q22) | ID, absent speech, stereotypy, epileptic encephalopathy | PE | MEF2C | MR (613 443) | Likely pathogenic |
| VD/2401 | inv(7)(q22q34) | Mandibulofacial dysostosis, toes syndactyly, hearing loss | PE | DLX5 | Split hand/foot malformation 1 (183 600) | Likely pathogenic |
| MD/2203 | t(1;3;5)(p21;p24;q?34) | ID, absent speech, ASD, epilepsy, FD | Disruption | MEF2C | MR (613 443) | Pathogenic |
| DM/0109 | t(1;19)(p36;q13.1) | ID, learning difficulties, dyslexia, behavioural troubles | Disruption | PRDM16 | Left ventricular non compaction (615 373) | Pathogenic |
| BA/2303 | t(2;8)(p16.3;p11.23) | ID, behavioural troubles, cryptorchidism | Disruption | NRXN1 | Autism (209 850) | Pathogenic |
| JE/1401 | t(X;10)(q?27;q?23) | ID, behavioural troubles, FD, obesity | PE | ZMIZ1 | Syndromic neurodevelopmental disorder | Likely pathogenic |
| EM/2403 | t(4;19)(q33;p13.2) | ID, overgrowth, macrocephaly, speech delay, FD | Disruption | NFIX | Sotos syndrome 2 (614 753) | Pathogenic |
| CF/2304 | t(2;15;8;10)(q32.3;q26;q21.3;q23) | ID, speech delay | PE | SATB2 | Glass syndrome (612 313) | Likely pathogenic |
| MC/1803 | t(7;10)(q21.1;q26.1) | ID, microcephaly, absent speech, FD | Disruption | AUTS2 | MR (615 834) | Pathogenic |
| JB/1404 | t(10;12)(q22.2;q24.3) | ID, microcephaly, stereotypy | Disruption | ZMIZ1 | Syndromic neurodevelopmental disorder | Pathogenic |
| JJ/0402 | t(3;6)(q21.3;p21.33) | ID, hypotonia, FD, behavioural troubles | Disruption | SYNGAP1 | MR (612 621) | Pathogenic |
| BM/1201 | t(5;8)(q23;q24)t(5;11)(p12;p11) | ID, growth retardation, speech delay | Disruption | GHR | Partial GH deficiency (604 271) | Pathogenic |
ASD, autistic spectrum disorder; CHD, congenital heart defect; FD, facial dysmorphism; GH, growth hormone; ID, intellectual disability; IDD, intellectual developmental disorder; MR, mental retardation; PE, position effect.