The 11q;22q translocation: A European collaborative analysis of 43 cases |
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Authors: | M Fraccaro J Lindsten C E Ford L Iselius A Antonelli P Aula A Aurias A D Bain M Bartsch-Sandhoff F Bernardi E Boyd L F Buchanan A H Cameron A de la Chapelle G Ciuffa C Cuoco B Dutrillaux G Dutton M A Ferguson-Smith D Francesconi J P M Geraedts G Gimelli J Gueguen E Gärsner A Hagemeijer F J Hansen P E Hollings T W J Hustinx A Kaakinen J J P van de Kamp H von Koskull J Lejeune R H Lindenbaum H H McCreanor M Mikkelsen F Mitelman B Nicoletti J Nilsby B Nilsson B Noel E Padovani F Pasquali J de Pater C Pedersen F Petersen E B Robson J Rotman M Ryynänen E Sachs J Salat R H Smythe I Stabell I Šubrt P Vampirelli G Wessner L Zergollern O Zuffardi |
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Institution: | 1. Department of General Biology and Medical Genetics, University of Pavia, Pavia, Italy 2. Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden 3. Department of Human Genetics, University of Leiden, Leiden, The Netherlands 4. Cytogenetics Center, Institute of General Biology II, University of Rome, Rome, Italy 5. Department of Paediatrics, University Hospital, Helsinki, Finland 6. Institut de Progénèse, University of Paris, Paris, France 7. Department of Pathology, Royal Hospital for Sick Children, Edinburgh, Great Britain 8. Department of Human Genetics, University Hospital, Essen, Germany 9. Genetics Center, Central Hospital Borgo Roma, Verona, Italy 10. Medical Genetics Department, Royal Hospital for Sick Children, Glasgow, Great Britain 11. New Plymouth, New Zealand 12. Department of Pathology, The Children's Hospital, Birmingham, Great Britain 13. Department of Medical Genetics, University of Helsinki, Helsinki, Finland 14. Neonatal Pathology Division, S. Giovanni Hospital, Rome, Italy 15. Laboratory II, Gastini Institute, Genova, Italy 16. Department of Psychiatry, County Hospital, Hereford, Great Britain 17. Department of Pediatrics, Central Hospital, Vaxj?, Sweden 18. Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands 19. Department of Pediatrics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark 20. Cytogenetics Laboratory, Wellington, New Zealand 21. Department of Human Genetics, Catholic University, Nijmegen, The Netherlands 22. Central Hospital, Tampere, Finland 23. Department of Pediatrics, University of Leiden, Leiden, The Netherlands 24. Laboratory of Prenatal Genetics, Helsinki University Hospital, Helsinki, Finland 25. Department of Medical Genetics, Oxford, Great Britain 26. Department of Medical Genetics, The John F.Kennedy Institute, Glostrup, Denmark 27. Department of Clinical Genetics, University Hospital, Lund, Sweden 28. Department of Pediatrics, Central Hospital, Karlskrona, Sweden 29. Department of Pediatrics, S:t G?rans Hospital, Stockholm, Sweden 30. Cytogenetics Laboratory, Central Hospital, Chambéry, France 31. de Ederhorst, Ede, The Netherlands 32. University Institute of Clinical Genetics, Department of Pediatrics, Institute of Pathology, The University Hospital, Odense, Denmark 33. The Galton Laboratory, University College, London, Great Britain 34. Department of Gynecology and Obstetrics, Kuopio University Central Hospital, Kuopio, Finland 35. Institute for the Care of Mother and Child, Prague, Czechoslovakia 36. A.I.A.S. Centre, Piacenza, Italy 37. Department of Pediatrics, Central Hospital, Kristianstad, Sweden 38. Djecja Klinika Rebro, Human Genetics Center, Zagreb, Yugoslavia
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Abstract: | Summary Translocation between the long arms of chromosomes 11 and 22 is usually detected in offspring with an unbalanced karyotype following a 3:1 disjunction resulting in partial trisomy. Since by the end of 1976 it was suspected that this translocation might be more frequent than one would deduce from published reports, it was decided to call for a collaborative effort in Europe to collect unpublished cases. In response, 42 cases were collected in Europe, and one case from New Zealand was added. The following countries were represented with the number of cases indicated in parentheses: Czechoslovakia (2), Denmark (4), Finland (3), France (6), Germany (1), Italy (5), The Netherlands (9), Sweden (6), United Kingdom (4), Yugoslavia (2). The wide geographical distribution indicates a multifocal origin of the translocation. Among the unpublished cases, 31 were ascertained as unbalanced carriers 47,XX or XY,+der(22),t(11;22)] and 12 as balanced balanced carriers 46,XX and XY,t(11;22)]. Among the published cases, 10 were ascertained in unbalanced and 3 in balanced carriers. The breakpoints of the translocations indicated by the contributors varied, the most frequently reported being 11q23;22q11 (25 cases), followed by q25;q13 (10 cases). While the first one seems more likely, it was not possible to decide whether the breakpoints were the same in all cases.All 32 probands with unbalanced karyotypes had inherited the translocation, 31 from the mother and only 1 from the father. This ratio became 43:1 when the published cases were added. A segregation analysis revealed that in families ascertained through probands with unbalanced karyotypes there was a ratio of carriers to normal (all karyotyped) 54:55, not a significant difference. The formal maximum (minimum) recurrence risk for this unbalanced translocation was calculated to be 5.6% (2.7%). When the ascertainment was through a balanced proband, the maximum risk was 2.7%. The risk was calculated as 5.7% for female and 4.3% for male carriers. The mean family size was 1.67 for the offspring of female carriers and 0.78 for the offspring of male carriers. This significant difference suggests that heterozygosity for the translocation reduces fertility in males. Indeed, several of the probands with balanced karyotypes were ascertained because of sub- or infertility. Only 2 de novo translocations were found among the 59 probands, and both, were among the 12 cases ascertained as balanced carriers. The source, quality, and quantity of the clinical data for the subjects with unbalanced karyotypes were variable, and no definite conclusions were possible about phenotypes. The following signs were recorded in 10 or more of the 45 cases: low birth weight, delayed psychomotor development, hypotonia, microcephaly, craniofacial asymmetry, malformed ears with pits and tags, cleft palate, micro-/retrognathia, large beaked nose, strabismus, congenital heart disease, cryptorchidism, and congenital dislocation of the hip joints. Many signs were similar to those considered typical of trisomy 11q, and the phenotype coincided almost completely with the presumptive phenotype of complete trisomy 22. No cases with coloboma was recorded, while other signs of the cat-eye syndrome were found in several probands. This might indicate that individuals with the cat-eye syndrome and carriers of the unbalanced 11/22 translocation have the same segment of 22 in triplicate plus or minus another chromosome segment. |
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