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Journal of Assisted Reproduction and Genetics
Published in: Journal of Assisted Reproduction and Genetics 5/2017

01-05-2017 | Genetics

A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences

Authors: Natalia Trpchevska, Ivanka Dimova, Tatyana Arabadji, Tanya Milachich, Svetlana Angelova, Magdalena Dimitrova, Mariela Hristova-Savova, Petya Andreeva, Tania Timeva, Atanas Shterev

Published in: Journal of Assisted Reproduction and Genetics | Issue 5/2017

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Abstract

Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient’s karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband’s mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.
Literature
1.
Madan K. Balanced complex chromosome rearrangements: reproductive aspects. A review. Am J Med Genet Part A. 2012;158A:947–63.CrossRefPubMed
2.
Pellestor F, Anahory T, Lefort G, Puechberty J, Liehr T, Hedon B, et al. Complex chromosomal rearrangements: origin and meiotic behavior. Hum Reprod Update. 2011;17(4):476–94.CrossRefPubMed
3.
Lespinasse J, North MO, Paravy C, Brunel MJ, Malzac P, Blouin JL. A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure. Hum Reprod. 2003;18(10):2058–66.CrossRefPubMed
4.
Gardner RJM, Sutherland GR, Lisa G. Shaffer, chromosome abnormalities and genetic counselling. UK: Oxford University Press; 2012.
5.
Madan K, Nieuwint AWM, 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(6):806–15.CrossRefPubMed
6.
De Gregory M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, et al. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2008;44(12):750–62.CrossRef
7.
Timar L, Beґres J, Kosztolanyi G, Neґmeth I. De novo complex chromosomal rearrangement in a woman with recurrent spontaneous abortion and one healthy daughter. Hum Genet. 1991;86:421.CrossRefPubMed
8.
Kotzot D, Holland H, Koёhler M, Froster UG. A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridization, and spectral karyotyping. Ann Genet. 2001;44:135–8.CrossRefPubMed
9.
Lazarczyk E, Drozniewska M, Pasinska M, Stasiewicz-Jarocka B, Midro AT, Haus O. Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures. Mol Cytogenet. 2014;7:83.CrossRefPubMedPubMedCentral
10.
Karmous-Benailly H, Giuliano F, Massol C, Bloch C, De Ricaud D, Lambert J-C, et al. Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations, and delayed development. Eur J Med Genet. 2006;49(5):431–8.CrossRefPubMed
11.
Chen C, Wang T, Lin C-C, Tsai F, Hsieh L, Wang W. Prenatal diagnosis of partial trisomy 3p (3p21→pter) and Partial Monosomy 11q (11q23→qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system. J Formos Med Assoc. 2008;107(10):822–6.CrossRefPubMed
12.
Zou P-S, Li H.-F, Chen L-S, Ma M, Chen X-H, Xue D et al. A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21. Genet. Mol. Res. 2016;15(2). doi:10.​4238/​gmr.​15028140.
13.
Okano Y, Osasa Y, Yamamoto H, Hase Y, Tsuruhara T, Fujita H. An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13→pter.: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome. Jpn J Hum Genet. 1986;31:365–72.CrossRef
14.
Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, et al. Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. Eur J Hum Genet. 2012;20:580–3. published online 18 January 2012.CrossRefPubMedPubMedCentral
15.
Rodewald A, Stengel-Rutkowski S, Schulz P, Cleve H. New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome. Eur J Pediatr. 1977;125(1):45–57.CrossRefPubMed
16.
Guanti G, Mollica G, Polimeno L, Maritato F. rDNA and acrocentric chromosomes in man. I. rDNA levels in a subject carrier of a 8p/13p balanced translocation and in his unbalanced son. Hum Genet. 1976;33(2):103–7.CrossRefPubMed
17.
Mahjoubi F, Totian S, Kareeme S, Shafegatee Y. Trisomy 8p (p11.2-pter) due to maternal translocation t(8;13)(p11;p12) in a child with dysmorphic features. Indian J. Hum. Genet. 2005; 11 2.
18.
Plomp AS, Engelen JJ, Albrechts JC, de Die-Smulders CE, Hamers AJ. Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3). Med Genet. 1998;35(7):604–8.CrossRef
19.
Baroncini A, Bertuzzo S, Quarantini R, Ricciardelli P, Giorda R, Bonaglia MC. 8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. Mol Cytogenet. 2013. 6(1):49. doi: 10.​1186/​1755-8166-6-49.
20.
Schurmann M, Wethling H, Niemeyer ML, Schwinger E. Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p. Klin Padiatr. 1987;199(1):27–31.CrossRefPubMed
21.
Gorlin RJ, Cohen Jr. MM, Hennekam RCM. Syndromes of the head and neck. Oxford Monogr Med Gent 2001; 42
22.
Shapira SK, McCaskill C, Northrup H, Spikes AS. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet. 1997;61(3):642–50.CrossRefPubMedPubMedCentral
23.
Salahshourifar I, Shahrokhshahi N, Tavakolzadeh T, Beheshti Z, Gourabi H. Complex chromosomal rearrangement involving chromosomes 1, 4 and 22 in an infertile male: case report and literature review. J Appl Genet. 2009;50:69–72.CrossRefPubMed
24.
Borg K, Nowakowska B, Obersztyn E, Cheung SW, Brycz-Witkowska J, Korniszewski L, et al. Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7) (p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am J Med Genet Part A. 2007;143A:2738–43.CrossRefPubMed
25.
26.
27.
28.
Godo A, Blanco J, Vidal F, Parriego M, Boada M, Anton E. Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier. J Assist Reprod Genet. 2013;30(9):1115–23. doi:10.​1007/​s10815-013-0063-5.CrossRefPubMedPubMedCentral
29.
Loup V, Bernicot I, Janssens P, Hedon B, Hamamah S, Pellestor F, et al. Combined FISH and PRINS sperm analysis of complex chromosome rearrangement t(1;19;13): an approach facilitating PGD. Mol Hum Reprod. 2010;16(2):111–6. doi:10.​1093/​molehr/​gap105.CrossRefPubMed
30.
Salahshourifar I, Shahrokhshahi N, Tavakolzadeh T, Beheshti Z, Gourabi HJ. Complex chromosomal rearrangement involving chromosomes 1, 4 and 22 in an infertile male: case report and literature review. Appl Genet. 2009;50(1):69–72. doi:10.​1007/​BF03195655.CrossRef
31.
Bartels I, Starke H, Argyriou L, Sauter SM, Zoll B, Liehr T. An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype. Eur J Med Genet. 2007;50(2):133–8.CrossRefPubMed
32.
Smigiel R, Laczmanska I, Sasiadek M. Maternal complex chromosome rearrangements involving five chromosomes 1,4,10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother’s first affected daughter. Clin Dysmorphol. 2007;16(1):63–4.CrossRefPubMed
33.
Cui YX, Wang YM, Yao B, Huang YF. A de novo complex chromosomal rearrangement including translocation on 1,5 and 12 in a female carrier with her healthy girl. Yi Chuan. 2004;26(5):612–4.PubMed
34.
Melo DG, Huber J, Giuliani LR, Mazzucatto LF, Riegel M, Pina-Neto JM. De novo complex chromosome rearrangement: a study of two patients. Genet Couns. 2004;15(3):303–10.PubMed
35.
Curotti G, Benkhalifa M, Raybaud C, Picard F, Bellec V, Qumsiyeh MB. De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH. Genet Couns. 1999;10(3):259–64.PubMed
36.
Sawicka A, Leśniewicz R, Zawada M, Stasiewicz-Jarocka B, Midro AT. Familial complex chromosome translocation of t(1;4;10)(q21.3;q27;q26.1) verified by FISH. Ginekol Pol. 1998;69(4):200–6.PubMed
37.
Johannesson T, Ehlers S, Wahlström J. Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization. J Clin Genet. 1997;51(4):281–5.CrossRef
38.
Gibson LH, McGrath J, Yang-Feng TL. A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization. Am J Med Genet. 1997;68(4):417–20.CrossRefPubMed
39.
Barros A, Tavares MC, Castedo S, Pereira MS, Tavares MP, Almeida e Costa M. A complex balanced chromosomal rearrangement in repeated abortions. Hum Genet. 1987;75(4):388–90.CrossRefPubMed
40.
Seabright M, Gregson N, Pacifico E, Mould S, Ryde J, Pearson J, et al. Rearrangements involving four chromosomes in a child with congenital abnormalities. Cytogenet Cell Genet. 1978;20(1–6):150–4.CrossRefPubMed
41.
Guilherme RS, Cernach MC, Sfakianakis TE, Takeno SS, Nardozza LM, Rossi C, et al. A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification. Cytogenet Genome Res. 2013;141(4):317–23. doi:10.​1159/​000353302.CrossRefPubMed
42.
Berend SA, Bodamer OA, Shapira SK, Shaffer LG, Bacino SA. Familial complex chromosomal rearrangement resulting in a recombinant chromosome CA. Am J Med Genet. 2002;109(4):311–7.CrossRefPubMed
43.
Batista DAS, Pai GS, Stetten G. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet. 1994;53(3):255–63.CrossRefPubMed
44.
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(1):65–7.CrossRefPubMed
45.
Ten SK, Chin YM, Tan SK, Hassan K. Three cases of partial trisomy 9q in one generation due to maternal reciprocal t(6;8;9) translocation. Clin Genet. 1987;31(6):359–65.CrossRefPubMed
46.
Kleczkowska A, Fryns JP, Jaeken J, Van den Berghe H. Complex chromosomal rearrangement involving chromosomes 11, 13 and 21. Ann Genet. 1988;31(2):126–8.PubMed
47.
Al-Awadi SA, Teebi AS, Sundareshan TS. Complex chromosomal rearrangement involving chromosomes 11, 13, 14 and 18 resulting in monosomy for 13q32----qter. Ann Genet. 1985;28(3):181–4.PubMed
48.
de Vree PJP, Simon MEH, van Dooren MF, Stoevelaar GHT, Hilkmann JTH, Rougen MA, et al. Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report. Mol Cytogenet. 2009;2:15.CrossRefPubMedPubMedCentral
49.
Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS. Reproductive risks for carriers of complex chromosome rearrangements:analysis of 25 families. Am J Med Genet. 1988;29:247–61.CrossRefPubMed
50.
Benzacken B, Siffroi JP, Straub B, Le Bourhis C, Sauvion S, Gaudelus J, et al. Case report: advanced paternal age and de-novo complex chromosomal rearrangement in offspring. Hum Reprod. 1998;13(7):1801–3.CrossRefPubMed
51.
Zhang F, Carvalho CMB, Lupski JR. Complex human chromosomal and genomic rearrangements. Trends Genet A. 2009;25:298–307.CrossRef
52.
Patsalis PC. Complex chromosomal rearrangements. Genet Couns. 2007;18:57–69.PubMed
53.
Kumar A, Becker LA, Depinet TW, Haren JM, Kutz CL, Robin NH, et al. Molecular characterization and delineation of subtle deletions in de novo ‘balanced’ chromosomal rearrangements. Hum Genet. 1998;103:173–8.PubMed
54.
Scott Sills E, Kim JJ, Witt MA, Palermo GD. Non-obstructive azoospermia and maturation arrest with complex translocation 46,XY t(9;13;14)(p22;q21;p13) is consistent with the Luciano-Guo hypothesis of latent aberrant autosomal regions and infertility. Cell Chromosome. 2005;4:2–5.CrossRef
55.
Karadeniz A, Mrasek K, Weise A. Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding. Mol Cytogenet. 2008;1:17.CrossRefPubMedPubMedCentral
56.
Giardino D, Corti C, Ballarati L, Finelli P, Valtorta C, Botta G, et al. Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs. Prenat Diagn. 2006;26:565–70.CrossRefPubMed
57.
Timeva T, Milachich T, Antonova I, Arabaji T, Shterev A, Omar H. Correlation between number of retrieved oocytes and pregnancy rate after in vitro fertilization/intracytoplasmatic sperm injection. Sci World J. 2006;6:686–90.CrossRef
58.
Schoolcraft WB. Importance of embryo transfer technique in maximizing assisted reproductive outcomes. Fertil Steril. 2016;105(4):855–60. Fertilization/IntraCytoplasmic Sperm Infection.CrossRefPubMed
59.
Shaffer LG, Slovak ML, Campbell LJ. An International system for human cytogenetic nomenclature. Basel: S Karger; 2013.
60.
Seller MJ, Bint S, Kavalier F, Brown RN, Mackie Ogilvie C. Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities. Am J Med Genet. 2006;140:1102–7.CrossRefPubMed
61.
Kuechler A, Ziegler M, Blank C, Rommel B, Bullerdiek J, Ahrens J, et al. A highly complex chromosomal rearrangement between five chromosomes in a healthy female diagnosed in preparation for intracytoplasmatic sperm injection. J Histochem Cytochem. 2005;53(3):355–7.CrossRefPubMed
62.
Meer B, Wolff G, Back E. Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations. Hum Genet. 1981;58(2):221–5.CrossRefPubMed
63.
Kausch K, Haaf T, Kohler J, Schmid M. Complex chromosomal rearrangement in a woman with multiple miscarriages. Am J Med Genet. 1988;31:415–420.27.
64.
Lee IW, Su MT, Hsu CC, Lin YH, Chen PY, Kuo PL. Constitutional complex chromosomal rearrangements in azoospermic men—case report and literature review. Urology. 2006;68:1343.e5–8.
65.
Grasshoff U, Singer S, Liehr T, Starke H, Fode B, SchoЁning M, et al. A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q2-1q22 and partial monosomy 4q27-q28. Cytogenet Genome Res. 2003;103:17–23.CrossRefPubMed
66.
Joly-Helas G, De La Rochebrochard C, Mousset-Simeґon N, Moirot H, Tiercin C, Romana SP, et al. Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report. Hum Reprod. 2007;22:1292–7.CrossRefPubMed
67.
Escudero T, Estop A, Ficher J, Munne S. Preimplantation genetic diagnosis for complex chromosome rearrangements. Am J Med Genet A. 2008;146:1662–9.CrossRef
68.
Lim CK, Cho JW, Kim JY, Kang IS, Shim SH, Jun JH. A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements. Fertil Steril. 2008;90:1680–4.CrossRefPubMed
69.
70.
71.
Weckselblatt B, Hermetz KE, Rudd MK. Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis. Genome Res. 2015;25(7):937–47.CrossRefPubMedPubMedCentral
72.
Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC, et al. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet. 2011;20(10):1916–24.CrossRefPubMed
Metadata
Title
A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences
Authors
Natalia Trpchevska
Ivanka Dimova
Tatyana Arabadji
Tanya Milachich
Svetlana Angelova
Magdalena Dimitrova
Mariela Hristova-Savova
Petya Andreeva
Tania Timeva
Atanas Shterev
Publication date
01-05-2017
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 5/2017
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-017-0893-7

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