Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients

Journal of Medical Genetics

Volumn 44, Issue 12, 2007, Pages 750-762

  De Gregori, M ^b   Ciccone, R ^b   Magini, P ^b   Pramparo, T ^b   Gimelli, S ^b   Messa, J ^b   Novara, F ^b   Vetro, A ^b   Rossi, E ^b   Maraschio, P ^b,c   Bonaglia, M C ^d   Anichini, C ^e   Ferrero, G B ^f   Silengo, M ^f   Fazzi, E ^b   Zatterale, A ^g   Fischetto, R ^h   Previdere C ^b   Belli, S ⁱ   Turci, A ^j   Calabrese, G ^k   Bernardi, F ^l   Meneghelli, E ^l   Riegel, M ^m   Rocchi, M ⁿ   Guerneri, S ^o   Lalatta, F ^o   Zelante, L ^p   Romano, C ^q   Fichera, Ma ^q   Martina, T ^r   Arrigo, G ^s   Zollino, M ^t   Giglio, S ^u   Lonardo, F ^v   Bonfante, A ^w   Ferlini, A ^x   Cifuentes, F ^y   Van Esch, H ^z   Backx, L ^z   Schinzel, A ^m   Vermeesch, J R ^z   Zuffardi, O ^a,b,c   more..

^a Sezione Biologia Generale e Genetica Medica   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d SCIENTIFIC INSTITUTE   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

^g Servizio di Citogenetica ASL NA1   (Italy)

^h DI VENERE HOSPITAL   (Italy)

ⁱ Consultorio Genetico ^*  (Italy)

^j Ospedale di Ravenna   (Italy)

^k UNIVERSITY OF CHIETI   (Italy)

^l Patologia Genetica e Prenatale   (Italy)

^m UNIVERSITY OF ZURICH   (Switzerland)

ⁿ UNIVERSITY OF BARI   (Italy)

^o FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^p CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^q OASI RESEARCH INSTITUTE IRCCS   (Italy)

^r UNIVERSITY OF CATANIA   (Italy)

^s SAN RAFFAELE HOSPITAL   (Italy)

^t FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^u UNIVERSITY OF FLORENCE   (Italy)

^v G RUMMO HOSPITAL   (Italy)

^w Ospedale San Bassiano   (Italy)

^x UNIVERSITY OF FERRARA   (Italy)

^y AGILENT TECHNOLOGIES   (United States)

^z UNIVERSITY HOSPITALS LEUVEN   (Belgium)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME REARRANGEMENT; CYTOGENETICS; DNA HYBRIDIZATION; FEMALE; FETUS; GENE DELETION; GENE MUTATION; GENE TRANSLOCATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SPERMATOGENESIS; SPONTANEOUS ABORTION; ULTRASOUND;

ABNORMALITIES, MULTIPLE; ABORTION, HABITUAL; ADULT; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME PAINTING; FEMALE; FETAL DISEASES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION; OOGENESIS; PHENOTYPE; PRENATAL DIAGNOSIS; SPERMATOGENESIS; TRANSLOCATION, GENETIC;

EID: 37249022297     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.052787     Document Type: Article

References (37)

1. Kenwrick S, Patterson M, Speer A, Fischbeck K, Davies K. Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis. Cell 1987;48:351-7.
2. 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.
3. Puissant H, Azoulay M, Serre JL, Piet LL, Junien C. Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient. Hum Genet 1988;79:280-2.
4. Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. Am J Med Genet 2002;111:405-8.
5. Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 2002;31:79-83.
6. Tupler R, Maraschio P, Gerardo A, Mainieri R, Lanzi G, Tiepolo L. A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33-q35.1. J Med Genet 1992;29:253-5.
7. Ruiz C, Grubs RE, Jewett T, Cox-Jones K, Abruzzese E, Pettenati MJ, Rao PN. Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: two new cases and review of the literature. Am J Med Genet 1996;64:478-84.
8. Madan K, Nieuwint AW, 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;99:806-15.
9. Patsalis PC, 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 Hum Genet 2004;12:647-53.
10. Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 2005;42:8-16.
11. Speicher MR, Carter NP. The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet 2005;6:782-92.
12. Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Laganà C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E. Reciprocal translocations: a trap for cytogenetists? Hum Genet 2005;117:571-82.
13. Larizza D, Maraschio P, Maghnie M, Sampaolo P. Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency. Eur J Pediatr 1993;152:424-7.
14. Smeets E, Fryns JP, Van den Berghe H. Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation. Clin Genet 1994;45:323-4.
15. Maserati E, Verri A, Seghezzi L, Tupler R, Federico A, Tiepolo L, Maraschio P. Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement. Ann Genet 1999;4:210-14.
16. Battisti C, Bonaglia MC, Giglio S, Anichini C, Pucci L, Dotti MT, Zuffardi O, Federico A. De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities. Am J Med Genet A 2003;117:207-11.
17. Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Lagana C, Stuppia L, Sabatino G, Palka G. Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. Am J Med Genet A 2004;127:144-8.
18. Pramparo T, Gregato G, De Gregori M, Friso A, Clementi M, Ardenghi P, Rocchi M, Zuffardi O, Tenconi R. Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male. Am J Med Genet A 2003;123:79-83.
19. Thienpont B, Gewillig M, Fryns JP, Devriendt K, Vermeesch J. Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies. Cytogenet Genome Res 2006;114:338-41.
20. Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C. A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features. Eur J Med Genet 2007;50:149-54.
21. Thomas NS, Durkie M, Van Zyl B, Sanford R, Potts G, Youings S, Dennis N, Jacobs P. Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum Genet 2006;119:444-50.
22. Ashley T, Gaeth AP, Inagaki H, Seftel A, Cohen MM, Anderson LK, Kurahashi H, Emanuel BS. Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22). Am J Hum Genet 2006;79:524-38.
23. Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002;71:276-85.
24. Kato T, Inagaki H, Yamada K, Kogo H, Ohye T, Kowa H, Nagaoka K, Taniguchi M, Emanuel BS, Kurahashi H. Genetic variation affects de novo translocation frequency. Science 2006;311:971.
25. Bandyopadhyay R, Heller A, Knox-DuBois C, McCaskill C, Berend SA, Page SL, Shaffer LG. Parental origin and timing of de novo Robertsonian translocation formation. Am J Hum Genet 2002;71:1456-62.
26. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A, Liebaers. Cytogenetics of infertile men. Hum Reprod 1996;Suppl 4):1-24, discussion 25-6.
27. Chandley AC. Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. Hum Reprod 1998;13(Suppl 1):45-50.
28. Solari AJ. Synaptonemal complex analysis in human male infertility. Eur J Histochem 1999;43:265-76.
29. Oliver-Bonet M, Ko E, Martin RH. Male infertility in reciprocal translocation carriers: the sex body affair. Cytogenet Genome Res 2005;111:343-6.
30. Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004;13(Spec No 1):R57-64.
31. Schneider KU, Sabherwal N, Jantz K, Roth R, Muncke N, Blum WF, Cutler GB Jr, Rappold G. Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. Am J Hum Genet 2005;77:89-96.
32. Raghavan SC, Lieber MR. DNA structures at chromosomal translocation sites. Bioessays 2006;28:480-94.
33. Kurahashi H, Inagaki H, Ohye T, Kogo H, Kato T, Emanuel BS. Chromosomal translocations mediated by palindromic DNA. Cell Cycle 2006;5:1297-303.
34. Mahadevaiah SK, Turner JM, Baudat F, Rogakou EP, de Boer P, Blanco-Rodriguez J, Jasin M, Keeney S, Bonner WM, Burgoyne PS. Recombinational DNA double-strand breaks in mice precede synapsis. Nat Genet 2001;27:271-6.
35. Judis L, Chan ER, Schwartz S, Seftel A, Hassold T. Meiosis I arrest and azoospermia in an infertile male explained by failure of formation of a component of the synaptonemal complex. Fertil Steril 2004;81:205-9.
36. Bartek J, Lukas J. DNA damage checkpoints: from initiation to recovery or adaptation. Curr Opin Cell Biol 2007;19:238-45.
37. Hunt PA, Hassold TJ. Sex matters in meiosis. Science 2002;296:2181-3.