Table 3

Apparently balanced chromosomal rearrangements with a phenotypic impact in the patients

PatientKaryotypePhenotype summaryMechanismGeneOMIM phenotypeClassification
IS/0101t(9;17)(p13;q21)ID, growth retardation, FDDisruption KANSL1 Koolen de Vries syndrome (610 443)Pathogenic
IL/1901der(3)inv(3)(p13;p22)inv(3)(p12;q26.3)ID, speech delay, cleft palateDisruption FOXP1 MR with language impairment (613 670)Pathogenic
VJ/0601t(4;14)(p15;q32.1)ID, speech delay, ASD, FDPE BCL11B IDD and T-cell abnormalities (618 092)Likely pathogenic
CS/1002ins(15;12) (q15 or q21;q24.1q24.2)ID, macrocephaly, FD, café-au-lait spotsDisruption SPRED1 Legius syndrome (611 431)Pathogenic
CL/2001t(11;15)(p14;q14)ID, absent speech, epilepsy, FD, CHD, larynx malposition,Disruption MEIS2 Cleft palate, cardiac defect, MR (600 987)Pathogenic
SL/0105inv(2)(p12q22)ID, microcephaly, behavioural troubles, epilepsy, ataxiaDisruption MBD5 MR (156 200)Pathogenic
EB/0401ins(5)(q15q23.3q34)ID, growth retardation, microcephaly, epilepsyPE MEF2C MR (613 443)Likely pathogenic
CG/0106t(X;13;15)(p21;q22;q22),t(6;11)(q21;q24)ID, absent speech, attention deficit, muscular dystrophyDisruption DMD Duchenne muscular dystrophy (310 200)Pathogenic
MH/1103inv(2)(q22;q32.3)ID, speech delay, epilepsyDisruption MBD5 MR (156 200)Pathogenic
JP/0107t(4;17)(q27;q23)Overweight, learning difficulties, attention disorder, FDDisruption TLK2 MR (618 050)Pathogenic
CS/1902t(4;14)(q31.1;q32.2)Learning difficulties, speech delay, psychiatric disorders, FDPE BCL11B IDD and T-cell abnormalities (618 092)Likely pathogenic
OL/2202t(1;14)(q32;q22)ID, absent speech, stereotypy, epileptic encephalopathyPE MEF2C MR (613 443)Likely pathogenic
VD/2401inv(7)(q22q34)Mandibulofacial dysostosis, toes syndactyly, hearing lossPE DLX5 Split hand/foot malformation 1 (183 600)Likely pathogenic
MD/2203t(1;3;5)(p21;p24;q?34)ID, absent speech, ASD, epilepsy, FDDisruption MEF2C MR (613 443)Pathogenic
DM/0109t(1;19)(p36;q13.1)ID, learning difficulties, dyslexia, behavioural troublesDisruption PRDM16 Left ventricular non compaction (615 373)Pathogenic
BA/2303t(2;8)(p16.3;p11.23)ID, behavioural troubles, cryptorchidismDisruption NRXN1 Autism (209 850)Pathogenic
JE/1401t(X;10)(q?27;q?23)ID, behavioural troubles, FD, obesityPE ZMIZ1 Syndromic neurodevelopmental disorderLikely pathogenic
EM/2403t(4;19)(q33;p13.2)ID, overgrowth, macrocephaly, speech delay, FDDisruption NFIX Sotos syndrome 2 (614 753)Pathogenic
CF/2304t(2;15;8;10)(q32.3;q26;q21.3;q23)ID, speech delayPE SATB2 Glass syndrome (612 313)Likely pathogenic
MC/1803t(7;10)(q21.1;q26.1)ID, microcephaly, absent speech, FDDisruption AUTS2 MR (615 834)Pathogenic
JB/1404t(10;12)(q22.2;q24.3)ID, microcephaly, stereotypyDisruption ZMIZ1 Syndromic neurodevelopmental disorderPathogenic
JJ/0402t(3;6)(q21.3;p21.33)ID, hypotonia, FD, behavioural troublesDisruption SYNGAP1 MR (612 621)Pathogenic
BM/1201t(5;8)(q23;q24)t(5;11)(p12;p11)ID, growth retardation, speech delayDisruption 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.