Table 1 Conventional karyotype and description of phenotype in 27 postnatal patients with de novo reciprocal translocations.
| 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.