Complex chromosomal rearrangements

Genetic Counseling

Volumn 18, Issue 1, 2007, Pages 57-69

  Patsalis, Philippos C ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

CCR; Cryptic chromosomal abnormalities; Prenatal diagnosis

Indexed keywords

CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME NUMBER; CHROMOSOME STRUCTURE; CHROMOSOME TRANSLOCATION; EXTRACHROMOSOMAL INHERITANCE; FERTILITY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; MEIOSIS; OOCYTE DEVELOPMENT; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; REVIEW; RISK ASSESSMENT; SPERMATOGENESIS; VERTICAL TRANSMISSION;

CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; FEMALE; FERTILITY; GENE REARRANGEMENT; GENETIC COUNSELING; HUMANS; MALE; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS;

EID: 34247524097     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (63)

1. ANDERSON R.M., MARSDEN S.J., WRIGET E.G., KADHIM M.A., GOODHEAD D.T., GRIFFIN C.S.: Complex chromosome aberrations in peripheral blood lymphocytes as a potential biomarker of exposure to high-LET alpha-particles. Int. J. Radiat. Biol., 2000, 76, 31-42.
2. ANDERSON R.M., TSEPENKO V.V., GASTEVA G.N., MOLOKANOV A.A., SEVAN'KAEV A.V., GOODHEAD D.T.: mFISH analysis reveals complexity of chromosome aberrations in individuals occupationally exposed to internal plutonium: a pilot study to assess the relevance of complex aberrations as biomarkers of exposure to high-LET alpha particles. Radiat. Res., 2005, 163, 26-35.
3. ASTBURY C., CHRIST L.A., AUGHTON D.J., CASSIDY S.B., FUJIMOTO A., PLETCHER B.A., SCHAFER I.A., SCHWARTZ S.: Delineation of complex chromosomal rearrangements: evidence for increased complexity. Hum. Genet., 2004, 114, 448-457.
4. BASS H.N., SPARKES R.S., LESSNER M.M., FOX M., PHOENIX B., BERNAR J.: A family with three independent autosomal translocations associated with 7q32 - 7qter syndrome. J Med. Genet., 1985, 22, 59-63.
5. BATISTA D.A., TUCK-MULLER C.M., MARTINEZ J.E., KEARNS W.G., PEARSON P.L., STETTEN G.: A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization. Hum. Genet., 1993, 92, 117-121.
6. BATISTA D.A.S., PAI G.S., STETTEN G.: Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am. J. Med. Genet., 1994, 53, 255-263.
7. BORG K., STANKIEWICZ P., BOCIAN E., KRUCZEK A., OBERSZTYN E., LUPSKI J.R., MAZURCZAK T.: Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. Hum. Genet., 2005, 14, 1-9.
8. BOWSER-RILEY S.M., GRIFFITHS M.J., CREASY M.R., FARNDON P.A., MARTIN K.E., THOMSON D.A., LARKINS S.A., JOHNSON R.A., WATT J.L.: Are double translocations double trouble? J. Med. Genet., 1988, 25, 326-331.
9. th Symposium of the Society for Experimental Biology Reading. C.W. Evans and H.G. Dickinson (eds). Company of Cambridge Biologists, 1984, 349-362.
10. BURNS J.P., KODURU P.R.K., ALONSO M.L. AND CHAGANTI R.S.K.: Analysis of meiotic segregation in a man heterozygous for two reciprocal translocations using the hamster in vitro penetration system. Am. J. Eum. Genet., 1986, 38, 954-964.
11. CALLEN D.F., EYRE H., MCDONNELL S., SCHUFFENHAUER S., BHALLA K.: A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction. Chromosoma, 2002, 111, 170-175.
12. CATTI A., SCHMID W.: A pericentric inversion, 5 p-q+, and additional complex rearrangements in a case of cri-du-chat syndrome. Cytogenetics, 1971, 10, 50-60.
13. CHANDLEY A.C., HARGREAVE T.B., FLETCHER J.M.: Translocation 21q22q in an infertile human male. J. Med. Genet., 1982, 19, 366-369.
14. CHANDLEY A.C., SPEED R.M.: Testing for non-disjunction in the mouse. Environ. Health Perspect, 1979, 31, 123-139.
15. DANIEL A., HOOK E.B., WULF G.: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. Am. J. Med. Genet., 1989, 31, 14-53.
16. FARRELL S.A., SUMMERS A.M., GARDNER H.A., UCHIDA I.A.: Balanced complex chromosome rearrangement ascertained through prenatal diagnosis. Am. J. Med. Genet., 1994, 52, 360-361.
17. FITZGERALD P.H., MIETHKE P., CASELEY R.T.: Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma. Clin. Genet., 1977, 12, 155-161.
18. FOREJT J, IVANYI P.: Genetic studies on male sterility of hybrids between laboratory and wild mice (Mus musculus L.). Genet. Res., 1974, 24, 189-206.
19. GABRIEL-ROBEZ O., RATOMPONIRINA C., DUTRILLAUX B., CARRE-PIGEON F., RUMPLER Y.: Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(19;22) and 46,XY,t(17;21). Cytogenet. Cell. Genet., 1986, 43, 154-160.
20. rd edition. Oxford University Press Inc., 2004.
21. GORSKI J.L., KISTENMACHER M.L., PUNNETT H.H., ZACKAI E.H., EMANUEL B.S.: Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families. Am. J. Med. Genet., 1988, 29, 247-261.
22. GRIBBLE S.M., PRIGMORE E., BURFORD D.C., PORTER K.M., NG B.L., DOUGLAS E.J., FIEGLER H., CARR P., KALAITZOPOULOS D., CLEGG S., SANDSTROM R., TEMPLE I.K., YOUINGS S.A., THOMAS N.S., DENNIS N.R., JACOBS P.A., CROLLA J.A., CARTER N.P.: The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J. Med. Genet., 2005, 42, 8-16.
23. HANDE M.P., AZIZOVA T.V., BURAK L.E., KHOKHRYAKOV V.F., GEARD C.R., BRENNER D.J.: Complex chromosome aberrations persist in individuals many years after occupational exposure to densely ionizing radiation: an mFISH study. Genes Chromosomes Cancer, 2005, 44, 1-9.
24. HANSTEEN I.L., SCHIRMER L., HESTETUN S., BROGGER A.: Complex chromosomal rearrangement leading to partial trisomy 22. J. Med. Genet., 1980, 17, 66-68.
25. HOUGE G., LIEHR T., SCHOUMANS J., NESS G.O., SOLLAND K., STAKE H., CLAUSSEN U., STROMME P., AKRE B., AND VERMEULEN S.: Ten years follow up of a boy with a complex chromosomal Rearrangement: Going a >5 to 15-breakpoint CCR. Am. J. Med. Genet. A, 2003, 118, 235-240.
26. JALBERT P., SELE B., JALBERT H.: Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing. A study of 151 human translocations. Hum. Genet., 1980, 55, 209-222.
27. JOHANNESSON T., EHLERS S., WAHLSTROM J.: Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization. Clin. Genet., 1997, 51, 281-285.
28. JOSEPH A., THOMAS I.M.: A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility. J. Med. Genet., 1982, 19, 375-376.
29. KAUSCH K., HAAF T., KÖHLER J SCHMID M.: Complex chromosomal rearrangement in a woman with multiple miscarriages. Am. J. Med. Genet., 1988, 31, 415-420.
30. KLECZKOWSKA A., FRYNS J.P., VAN DEN BERGHE H.: Complex chromosomal rearrangements (CCR) and their genetic consequences. J. Genet. Hum., 1982, 30, 199-214.
31. KOUSSEFF B.G., PAPENHAUSEN P., ESSIG Y.P., TORRES M.P.: Complex chromosome rearrangement with ankyloblepharon filiforme adnatum. J. Med. Genet., 1993, 30, 167-170.
32. LEE M.H., PARK S.Y., KIM Y.M., KIM J.M., HAN J.Y., KIM M.Y., RYU H.M.: Prenatal diagnosis of a familial complex chromosomal rearrangement involving chromosomes 5, 10, 16 and 18. Prenat. Diagn., 2002, 22, 102-104.
33. LESPINASSE J., BUGGE M., RETHORE M.O., NORTH M.O., LUNDSTEEN C., KIRCHHOFF M.: De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder. Am. J. Med. Genet. A., 2004, 15, 128, 199-203.
34. LESPINASSE J., NORTH M.O., PARAVY C., BRUNEL M.J., MALZAC P., BLOUIN J.L.: A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure. Hum. Reprod., 2003, 18, 2058-2066.
35. LESPINASSE J., RETHORE M.O., NORTH M.O., BOVIER-LAPIERRE M., LUNDSTEEN C., FERT FERRER S., BUGGE M., KIRCHOFF M.: Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases. Ann. Genet., 2004, 47, 315-324.
36. LURIE I.W., WULFSBERG E.A., PRABHAKAR G., ROSENBLUM-VOS L.S., SUPOVITZ K.R., COHEN M.M.: Complex chromosomal rearrangements: some breakpoints may have cellular adaptive significance. Clin. Genet., 1994, 46, 244-247.
37. MADAN K., NIEUWINT A.W.M., VAN BEVER Y.: Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum. Genet., 1997, 99, 806-815.
38. MASUNO M., ASANO J., YASUDA K., KONDO T., ORII T.: Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother, derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies. Am. J. Med. Genet., 1993, 45, 65-67.
39. MCCOMBS J.L., DAESCHNER C.W. 3RD, LOCKHART L.H., ROUSE B.M., HEATH D.V.: A complex chromosomal rearrangement and congenital anomalies in the progeny of a mother treated for childhood leukemia. Cancer Genet. Cytogenet., 1990, 50, 169-170.
40. MUNEER R.S., HIMES J., RENNERT O.M.: Complex de novo rearrangement involving four chromosomes and ten break points with interstitial deletions and duplication. Am. J. Med. Genet., 1988, 31, 33-37.
41. OLSON S.B., MAGENIS R.E.: Preferential paternal origin of de novo structural chromosome rearrangements. In: The Cytogenetics of Mammalian Autosomal Rearrangements. A. Daniel (ed.). New York, A.R. Liss, 1988, 583-599.
42. OSTRER H., STAMBERG J., PERINCHIEF P.: Two chromosome aberrations in the child of a woman with systemic lupus erythematosus treated with azathioprine and prednisone. Am. J. Med. Genet., 1984, 17, 627-632.
43. PAI G.S., THOMAS G.H., MAHONEY W., MIGEON B.R.: Complex chromosome rearrangements. Report of a new case and literature review. Clin. Genet., 1980, 18, 436-444.
44. PATSALlS P.C., EVANGELIDOU P., CHARALAMBOUS S., SISMANI C.: Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur. J. Eum. Genet., 2004, 12, 647-653.
45. PESCHKA B., LEYGRAAF J., HANSMANN D., HANSMANN M., SCHROCK E., RIED T., ENGELS H., SCHWANITZ G., SCHUBERT R.: Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping. Prenat. Diagn., 1999, 19, 1143-1149.
46. PHELAN M.C., BLACKBURN W., ROGERS R.C., CRAWFORD E.C., COOLEY NR Jr., SCHROCK E., NING Y., RIED T.: FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16. Prenat. Diagn., 1998, 18, 1174-1180.
47. RODRIQUEZ M.T., MARTIN M.J., ABRISQUETA J.A.: A complex balanced rearrangement involving four chromosomes in an azoospermic man. J. Med. Genet. 1985, 22, 66-67.
48. ROSENBERG C., KNIJNENBURG J., CHAUFFAILLE M.L., BRUNONI D., CATELANI A.L., SLOOS W., SZUHAI K., TANKE H.J.: Array CGH detection of a cryptic deletion in a complex chromosome rearrangement. Hum. Genet., 2005, 116, 390-394.
49. SAADALLAH N., HULTÉN M.: A complex three breakpoint translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility. Hum. Genet., 1985, 71, 312-320.
50. SIKKEMA-RADDATZ B., SIJMONS R.H., TAN SINDHUNATA M.B., VAN DER VEEN A.Y., BRUNSTING R., de VRIES B., BEEKHUIS J.R., BEKEDAM D.J., Van AKEN B., De JONG B.: Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case. Prenat. Diagn., 1995, 15, 467-473.
51. TABOR A., JENSEN L.K., LUNDSTEEN C., NIEBUHR E.: A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child. J. Med. Genet., 1981, 18, 307-309.
52. TEASE C, HARTSHORNE GM, HULTEN MA.: Patterns of meiotic recombination in human fetal oocytes. Am. J. Hum. Genet., 2002, 70, 1469-1479.
53. TIHY F., LEMIEUX N., LEMYRE E.: Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities. Am. J. Med. Genet A., 2005, 135, 317-319.
54. TRIMBORN M., LIEHR T., BELITZ B., PFEIFFER L., VARON R., NEITZEL H., TONNIES H.: Prenatal diagnosis and molecular cytogenetic characterization of an unusual complex structural rearrangement in a pregnancy following intracytoplasmic sperm injection (ICSI). J. Histochem. Cytochem., 2005, 53, 351-354.
55. VAN DER BURGT C.J., MERKX G.F., JANSSEN A.H., MULDER J.C., SUIJKERBUIJK R.F., SMEETS D.F.: Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent. J. Med. Genet., 1992, 29, 739-741.
56. MIGLIORI M.V., PETTINARI A., CIASCHINI A.M., PIERMATTEI P., PIGLIAPOCO F., DISCEPOLI G.: Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation. Prenat. Diagn., 2004, 24, 290-292.
57. VERMEULEN S., MENTEN B., VAN ROY N., VAN LIMBERGEN H., DE PAEPE A., MORTIER G., SPELEMAN F.: Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints. Am. J. Med. Genet. A, 2004, 124, 10-18.
58. WAGSTAFF J., HEMANN M.: A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. Am. J. Hum. Genet., 1995, 56, 302-309.
59. WALKER A.P., BOCIAN M.: Partial duplication 8q12 - q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8. Am. J. Med. Genet., 1987, 27, 3-22.
60. WALKER S., HOWARD P.J., HUNTER D.: Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination. J. Med. Genet., 1985, 22, 484-491.
61. WANG H., MCLAUGHLIN M., THOMPSON C., HUNTER A.G.: Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis. Am. J. Med. Genet., 1993, 46, 559-562.
62. WARBURTON D.: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am. J. Hum. Genet., 1991, 49, 995-1013.
63. ZAHED L., Der KALOUSTIAN V., BATANIAN J.R.: Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products. Am. J. Med. Genet., 1998, 79, 30-34.