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Human Genetics

, Volume 56, Issue 1, pp 21–51 | Cite as

The 11q;22q translocation: A European collaborative analysis of 43 cases

  • 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
Original Investigations

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than one would deduce from published reports, it was decided to call for a collaborative effort in Europe to collect unpublished cases.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 Among the unpublished cases, 31 were ascertained as unbalanced carriers [47,XX or XY,+der(22),t(11;22)] and 12 as balanced balanced carriers [46,XX and XY,t(11;22)].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.

Keywords

Congenital Heart Disease Strabismus Cleft Palate Cryptorchidism Partial Trisomy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • M. Fraccaro
    • 1
  • J. Lindsten
    • 2
  • C. E. Ford
    • 3
  • L. Iselius
    • 2
  • A. Antonelli
    • 4
  • P. Aula
    • 5
  • A. Aurias
    • 6
  • A. D. Bain
    • 7
  • M. Bartsch-Sandhoff
    • 8
  • F. Bernardi
    • 9
  • E. Boyd
    • 10
  • L. F. Buchanan
    • 11
  • A. H. Cameron
    • 12
  • A. de la Chapelle
    • 13
  • G. Ciuffa
    • 14
  • C. Cuoco
    • 15
  • B. Dutrillaux
    • 6
  • G. Dutton
    • 16
  • M. A. Ferguson-Smith
    • 10
  • D. Francesconi
    • 1
  • J. P. M. Geraedts
    • 3
  • G. Gimelli
    • 15
  • J. Gueguen
    • 6
  • E. Gärsner
    • 17
  • A. Hagemeijer
    • 18
  • F. J. Hansen
    • 19
  • P. E. Hollings
    • 20
  • T. W. J. Hustinx
    • 21
  • A. Kaakinen
    • 22
  • J. J. P. van de Kamp
    • 23
  • H. von Koskull
    • 24
  • J. Lejeune
    • 6
  • R. H. Lindenbaum
    • 25
  • H. H. McCreanor
    • 20
  • M. Mikkelsen
    • 26
  • F. Mitelman
    • 27
  • B. Nicoletti
    • 4
  • J. Nilsby
    • 28
  • B. Nilsson
    • 29
  • B. Noel
    • 30
  • E. Padovani
    • 9
  • F. Pasquali
    • 1
  • J. de Pater
    • 31
  • C. Pedersen
    • 32
  • F. Petersen
    • 26
  • E. B. Robson
    • 33
  • J. Rotman
    • 6
  • M. Ryynänen
    • 34
  • E. Sachs
    • 18
  • J. Salat
    • 6
  • R. H. Smythe
    • 20
  • I. Stabell
    • 32
  • I. Šubrt
    • 35
  • P. Vampirelli
    • 36
  • G. Wessner
    • 37
  • L. Zergollern
    • 38
  • O. Zuffardi
    • 1
  1. 1.Department of General Biology and Medical GeneticsUniversity of PaviaPaviaItaly
  2. 2.Department of Clinical GeneticsKarolinska HospitalStockholmSweden
  3. 3.Department of Human GeneticsUniversity of LeidenLeidenThe Netherlands
  4. 4.Cytogenetics Center, Institute of General Biology IIUniversity of RomeRomeItaly
  5. 5.Department of PaediatricsUniversity HospitalHelsinkiFinland
  6. 6.Institut de ProgénèseUniversity of ParisParisFrance
  7. 7.Department of PathologyRoyal Hospital for Sick ChildrenEdinburghGreat Britain
  8. 8.Department of Human GeneticsUniversity HospitalEssenGermany
  9. 9.Genetics CenterCentral Hospital Borgo RomaVeronaItaly
  10. 10.Medical Genetics DepartmentRoyal Hospital for Sick ChildrenGlasgowGreat Britain
  11. 11.New PlymouthNew Zealand
  12. 12.Department of PathologyThe Children's HospitalBirminghamGreat Britain
  13. 13.Department of Medical GeneticsUniversity of HelsinkiHelsinkiFinland
  14. 14.Neonatal Pathology DivisionS. Giovanni HospitalRomeItaly
  15. 15.Laboratory IIGastini InstituteGenovaItaly
  16. 16.Department of PsychiatryCounty HospitalHerefordGreat Britain
  17. 17.Department of PediatricsCentral HospitalVaxjöSweden
  18. 18.Department of Cell Biology and GeneticsErasmus UniversityRotterdamThe Netherlands
  19. 19.Department of Pediatrics, RigshospitaletUniversity of CopenhagenCopenhagenDenmark
  20. 20.Cytogenetics LaboratoryWellingtonNew Zealand
  21. 21.Department of Human GeneticsCatholic UniversityNijmegenThe Netherlands
  22. 22.Central HospitalTampereFinland
  23. 23.Department of PediatricsUniversity of LeidenLeidenThe Netherlands
  24. 24.Laboratory of Prenatal GeneticsHelsinki University HospitalHelsinkiFinland
  25. 25.Department of Medical GeneticsOxfordGreat Britain
  26. 26.Department of Medical GeneticsThe John F.Kennedy InstituteGlostrupDenmark
  27. 27.Department of Clinical GeneticsUniversity HospitalLundSweden
  28. 28.Department of PediatricsCentral HospitalKarlskronaSweden
  29. 29.Department of PediatricsS:t Görans HospitalStockholmSweden
  30. 30.Cytogenetics LaboratoryCentral HospitalChambéryFrance
  31. 31.de EderhorstEdeThe Netherlands
  32. 32.University Institute of Clinical Genetics, Department of Pediatrics, Institute of PathologyThe University HospitalOdenseDenmark
  33. 33.The Galton LaboratoryUniversity CollegeLondonGreat Britain
  34. 34.Department of Gynecology and ObstetricsKuopio University Central HospitalKuopioFinland
  35. 35.Institute for the Care of Mother and ChildPragueCzechoslovakia
  36. 36.A.I.A.S. CentrePiacenzaItaly
  37. 37.Department of PediatricsCentral HospitalKristianstadSweden
  38. 38.Djecja Klinika RebroHuman Genetics CenterZagrebYugoslavia

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