| Patient | Conventional karyotype | Phenotype |
| 1 | t(2;7)(p13;q31.1)(2qter→2p13::7q31.1→7qter;7pter→7q31.1::2p13→2pter) | Female, 22 years old, verbal dyspraxia, mildly delayed psychomotor development |
| 2 | t(1;5)(q23.3;q24.2)(1pter→1q23.3::5q24.2→5qter,5pter→5q24.2::1q23.3→1qter) | Male, diffuse hypotonia, absence of speech, poor eye contact, stereotyped movements, poor social interaction and stress-induced anxiety attacks. Ectopic hypoplastic right kidney, mild enlargement of the ventricular system at the frontal horns |
| 3 | t(2;9)(q33;p22)(2pter→2q33::9p22→9pter,9pter→9p22::2q33→2qter) | Male, absence of speech, microretrognatia, long philtrum, clinodactily |
| 4 | t(2;7)(q31;q32)(2pter→2q31::7q32→7qter;7pter→7q32::2q31→2qter) | Male, 5 years old, seizure on first day of life, psychomotor and speech retardation, mildly dysmorphic face, bruxism, partial epilepsy |
| 5 | t(1;17)(q24;p13)(1pter→1q24::17p13→17pter;17qter→17p13::1q24→1qter) | Female, mild intrauterine growth retardation, podalic delivery at term. Birt hweight 10th centile, length 50th centile; walking at 18 months, ataxic gait at 34 months; absence of language |
| 6 | t(2;8)(q31;q24)(2pter→2q31::8q24→8qter;8pter→8q24::2q31→2qter) | Male, oligoamnios, caesarean section, intrauterine growth retartdation. At birth, weight and length <3rd centile. Presently (8 months) weight 8500 g (25th–50th centile) height 76 cm (75th centile) head circumference 43.5 cm (<3rd centile), mild facial dysmorphism, severe hypotonia, low-set thumb, simian crease. CPK, LDH, GOT, GPT, ALP increased |
| 7 | t(8;14)(q13;q13)(8pter→8q13::14q13→14qter,14pter→14q13::8q13→8qter) | Female, terinatal hypotonia, stereotyped hand movements, ataxic walk, mild mental retardation, dysmorphic face, speech retardation, ventricle asymmetry, hypotelorism |
| 8 | t(6;7)(q12;p21)(6pter→6q12::7p21→7pter;6qter→6q12::7p21→7qter) | Male, mild mental retardation, myoclonic epilepsy, central core myopathy, congenital myeloperoxidase deficiency |
| 9 | t(1;9)(q44;p13.3)(1pter→1q44::9p13.3→9pter;9qter→9q44::1q44→1qter) | Female, moderate mental retardation, mild facial dysmorphism |
| 10 | t(7;9)(p11.2;p22)(7qter→7p11.2::9p22→9pter;9qter→9p22::7p11.2→7pter) | Female, trigonocephaly with prominent metopic suture, downslanting palpebral fissures, depressed nasal bridge, anteverted nares, bilateral epicanthic folds, small and dysplastic ears, urinary reflex, mental retardation |
| 11 | t(2;17)(q23;q25)(2pter→2q23::17q25→17qter;17pter→17q25::2q23→2qter) | Female with campomelic dysplasia, narrow forehead, upslanting palpebral fissures, narrow lids, strabismus, glaucoma, cataract, cleft palate, hearing loss and mental retardation |
| 12 | t(5;7)(q34;p21.1)(5pter→5q34::7p21.1→7pter;7qter→7p21.1::5q34→5qter) | Female, mental retardation, epilepsy, microcephaly, obesity |
| 13 | t(12;15)(q32.1;q26.2)(12pter→12q32.1::15q26.2→15qter,15pter→15q26.2::12q32.1→12qter) | Male, speech and language retardation, attention deficit |
| 14 | t(11;14)(q13;14q24.1)(11pter→11q13::14q24.1→14qter,14pter→14q24.1::11q13→11qter) | Male, walking at 12 months, speech at 40 months, dysmorphic face with teleorbitism |
| 15 | t(5;6)(q21;q21)(5pter→5q21::6q21→6qter;6pter→6q21::5q21→5qter) | Female, psychomotor retardation |
| 16 | t(3;10)(p12;q26)(3qter→3p12::10q26→10qter,10pter→10q26::3p12→3pter) | Female, corneal leucoma |
| 17 | t(X;18)(q22.3;q23)(Xpter→Xq22.3::18q23→18qter;18pter→18q23::Xq22.3→Xqter) | Female, pituitary hormone deficiency hypogonadism13 |
| 18 | t(11;12)(p13;q14.3)(11qter→11p13::12q14.3→12qter;12pter→12q14.3::12p13→12pter) | Female, mesenchymal hypertrophy, macroglossia, lymphatic hyperplasia, hypophysary microadenoma, aggressive angiomyxoma, naevi with “cigarette paper” scars |
| 19 | t(16;Y)(p10;q10)(16qter→16p10::Yq10→Yqter;Ypter→Yq10::16p10→16pter) | Male, epileptic encephalopathy with myoclonic seizures, severe psychomotor retardation |
| 20 | t(5;10)(q15;q22)(5pter→5q15::10q22→10qter;10pter→10q22::5q15→5qter) | Male, foot malformation, psychomotor retardation, walking at 24 months, limited speech and cognitive deficit., movement impairment with stereotyped movements, no control of sphincters |
| 21 | t(7;12)(p15;q13)(7qter→7p15::12q13→12qter;12pter→12q13::7p15→7pter) | Female, diabetes, bilateral clinodactyly, limited speech and cognitive deficit |
| 22 | t(9;21)(p11;p11)(9qter→9p11::21p11→21pter;21qter→21p11::21pter) | Female, Melkersson–Rosenthal syndrome14 |
| 23 | t(7;16)(q34;q13)(7pter→7q34::16q13→16qter;16pter→16q13::7q34→7qter) | Female, mild psychomotor retardation, thyroid dysfunction, insufficient ponderal growth |
| 24 | t(7;9)(q35;q32)(7pter→7q35::9q32→9qter,9pter→9q32::7q35→7qter) | Male, mild psychomotor retardation |
| 25 | t(3;5)(q25;q15)(3pter→3q25::5q15→5qter;5pter→5q15::3q25→3qter) | Male, high birth weight, developmental delay |
| 26 | t(10;17)(q26.1;q21)(10pter→10q26.1::17q21→17qter;17pter→17q21::10q26.1→10qter) | Female, growth retardation, microcephaly, mental retardation (IQ of 68), mildly dysmorphic features |
| 27 | t(9;13)(q21.3;q33)(9pter→9q21.3::13q33→13qter;13pter→13q33::9q21.3→9qter) | Male, dysmorphic pattern, moderate mental retardation |
ALP, alkaline phosphatase; CPK, creatine phosphokinase, GOT, glutamate oxaloacetate transaminase; GPT, glutamate pyruvate transaminase; LDH, lactate dehydrogenase.