| 42 | t(3;8;13;21)(3pter→3q27::13q14.11→13qter;8pter→8q12::21q22.2→21qter;13pter→13q12.1::21q22.1→21q22.2::3q27→3qter) G-banding + painting; balanced | Male, severe mental retardation, absence of speech, autism |
| 43 | t(4;11;20)(4pter→4q31.2::20p13→20pter;11qter→11p15::4q31.2→4qter;20qter→20p13::11p15→11pter)3 G-banding+subtelomeric FISH and painting (not shown); balanced | Male, prominent forehead, curly hair, bilateral epicanthus, psychomotor retardation, absence of spoken language at 22 months |
| 44 | der(2)ins(2;X)(p21.1;p21.1),inv(2)(p22q37.1)(p11.2q33)(2qter→2q37.1::2p22::Xp21.1::2q36→2q33::2p11.2→2q33::2p12→2p21::2p23→2pter) G-banding + painting; unbalanced: del(X)(p21.1) | Female, Duchenne muscular dystrophy |
| 45 | t(5;7)(5qter→p11::7q11→7qter;7pter→7q11::5p11→5pter),t(14;20)(14pter→14q24::20q13.1→20qter)4R-banding + painting; balanced | Male, born at 39 weeks, birth weight 2650 (3rd–10th centile), lenght 37 cm (<<3rd centile), occipitofrontal circumference <50th centile, arthrogryposis |
| 46 | t(2;4)(2qter→2p16.2::4q31.3→4qter;4pter→4q31.3::2p16.2→2pter),t(11;13)(11pter→11q21::13q21.1→13qter;13pter→13q21.1::11q21→11qter) G-banding + painting; balanced | Male, moderate to severe mental retardation, behavioural problems with hyperactivity and high pain threshold, hypotonic facies: mild ptosis, epicanthic folds, antimongoloid palpebral fissures, bilateral epibulbar dermoids |
| 47 | t(1;2;4;11)(2qter→2q11.2::1p13.1→1q25::. 11::1q25→1qter;2pter→2q11.2::4q31.1→4q33::4q35.1→4qter;4pter→4q31.1::11q13.1→11q23::1p13.1→1pter;11pter→11p13::11p11.11→11q13.1::11q23→11qter)10 G-banding + painting; unbalanced: del(4)(q33→q35.1) | Female, severe mental retardation, coarse facies, pachigyria, stature <3rd centile6 |
| 48 | t(1;4)(q11.1;p14)(4p14::1q11.1→1qter,)t(5;18)(p10;q10)(5pter→5p10::18q10→118qter,18pter→18q10::5p10→5pter) G-banding + painting; unbalanced: del(4)(p13pter) | Female, congenital heart defects with left ventricle and aortic valve hypoplasia, bilateral kidney hypoplasia, 4p− facial gestalt, died at 4 days of age. |
| 49 | t(3;13)(3qter→3p23::13q34→13qter;13pter→13q34::3p23→3pter),t(4;8;18)(4pter→4q35::8q21→qter;4qter→4q35::8p21→8q21::18q23→18qter;18pter→18q23::8p21→8qter))6 G-banding + painting; balanced | Male, mild mental retardation, thoracic kyphoscoliosis, deformity of fingers and toes15 |
| 50 | t(1;3;6;11)(1qter→1p31::3q25→3qter;3pter→3q25::11q13→11qter;6pter→6q22::11q13→11q14::6q22→6qter;11pter→11q14::1p31→1pter)5 G-banding+ painting; balanced | Male, complex craniosynostosis, metopic, coronal and sagittal synostoses, mild mental retardation with attention deficit |
| 51 | t(1;10)(p21;p12)(1pter→1p21::10p12→10qter,10pter→10p12::1p21→1qter),t(2;16)(p16;q21)(2pter→2p16::16q21→16qter,16pter→16q21::2p16→2pter) G-banding + painting; balanced | Male, atrioventricular canal detected in 20th week of pregnancy. At birth, tricuspid hypoplasia, low set ears, micrognathia. At 8 months, Dandy–Walker malformation on brain MRI |
| 52 | ins(4;16)(q23;q21q23)(16pter→16q21::4q23::16q23→16qter) G-banding + painting; balanced | Female, at 11 months, length and head circumference <3rd centile, mixed hypo/hypertonia, high-pitched voice, severe mental retardation, upslanting palpebral fissure, convergent squint, epicanthic folds, long and narrow tongue |
| 53 | t(11;22)(11pter→11q11::22q11→22qter;22pter→22q11::11q11→11qter),t(3;4;9)(q28;q27;q13)(3pter→3q28::9q32→9qter;4pter→4q27::9q21.1→9q31;3qter→3q28::9p24→9q21.1::4q27→4qter) G-banding + painting; balanced | Male, hypotonia, dysmorphic face, microphthalmia, epicantic folds, simian crease, unusual cry. |
| 54 | t(2;5;16;17)(2pter→2q37.3::17q25.3→17qter;5pter→5q21.2::16q22.3→16q13::5q22→5q31.1::16q22.3→16qter G-banding + painting; balanced | Male, cerebellar hypoplasia, mild mental retardation, skeletal abnormalities and ataxia, height <3rd centile16 |