PGD for a carrier of an intrachromosomal insertion using aCGH

Systems Biology in Reproductive Medicine

Volumn 60, Issue 6, 2014, Pages 377-382

  Jones, Claire Ann ^a   Kolomietz, Elena ^a,b   Maire, Georges ^a,b   Vlasschaert, Matthew ^a   Joseph George, Ann M ^c   Myles Reid, Diane ^d   Chong, Karen ^c,d   Chitayat, David ^c,d   Arthur, Rebecca ^a  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Array comparative genomic hybridization; Chromosomal abnormalities; in vitro fertilization; Preimplantation genetic diagnosis

Indexed keywords

ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; BLASTOCYST; CHROMOSOME 1; CHROMOSOME INSERTION; COMPARATIVE GENOMIC HYBRIDIZATION; ECTODERM; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTRACHROMOSOMAL INSERTION; KARYOTYPE 46,XX; METAPHASE CHROMOSOME; MOLECULAR DIAGNOSIS; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL DIAGNOSIS; SYSTEMATIC REVIEW; ADULT; BIOPSY; CASE REPORT; CHROMOSOME ABERRATION; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; GENETIC SCREENING; GENETICS; HETEROZYGOTE; PATHOLOGY; PREDICTIVE VALUE; PREGNANCY; PROCEDURES; RECURRENT ABORTION; TREATMENT FAILURE;

ABORTION, HABITUAL; ADULT; BIOPSY; BLASTOCYST; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; GENETIC TESTING; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PREDICTIVE VALUE OF TESTS; PREGNANCY; PREIMPLANTATION DIAGNOSIS; TREATMENT FAILURE;

EID: 84908673558     PISSN: 19396368     EISSN: 19396376     Source Type: Journal    
DOI: 10.3109/19396368.2014.962710     Document Type: Article

References (35)

1. Aboura, A., Coulomb-L'Hermine, A., Audibert, F., Capron, F., Frydman R., and Tachdjian, G. (2002) De novo interstitial direct duplication 1(q23.1q31.1) in a fetus withPierre Robin sequence and camptodactyly. Am J Med Genet 108:153-9
2. Alfarawati, S., Fragouli, E., Colls, P., and Wells, D. (2011) First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod 26:1560-74
3. Ardalan, A., Prieur, M., Choiset, A., Turleau, C., Goutieres, F., and Girard-Orgeolet, S. (2005) Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20. Am J Med Genet A 138A:288-93
4. Basinko, A., Douet-Guilbert, N., Le Bris, M.J., Parent, P., Ansquer, H., Morel, F., et al. (2008) Molecular cytogenetic characterization of an 8p22-8p23.2 duplication derived from a maternal intrachromosomal insertion in a child withcongenital heart malformation, delayed puberty, and learning disabilities. Am J Med Genet A 146A:2950-4
5. Burnside, R.D., Lose, E.J., Dominguez, M.G., Sanchez-Corona, J., Rivera, H., Carroll, A.J., et al. (2009) Molecular cytogenetic characterization of two cases withconstitutional distal 11q duplication/ triplication. Am J Med Genet A 149A:1516-22
6. Chudley, A.E., Bauder, F., Ray, M., McAlpine, P.J., Pena, S.D., and Hamerton, J.L. (1974) Familial mental retardation in a family withan inherited chromosome rearrangement. J Med Genet 11:353-66
7. Collinson, M.N., Roberts, S.E., Crolla, J.A., and Dennis, N.R. (2004) A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion. Am J Med Genet A 126A:27-32
8. Daniel, A., Hook, E.B., and Wulf G. (1988) Collaborative USA data on prenatal diagnosis for parental carriers of chromosome rearrangements: Risk of unbalanced progeny. In: A. Daniel, ed. The cytogenetics of mammalian autosomal rearrangements. New York: Lisspp. 73-162
9. Farrell, S.A. and Chow, G. (1992) Intrachromosomal insertion of chromosome 7. Clin Genet 41:299-302
10. Fiorentino, F. (2012) Array comparative genomic hybridization: Its role in preimplantation genetic diagnosis. Curr Opin Obstet Gynecol 24: 203-9
11. Fiorentino, F., Spizzichino, L., Bono, S., Biricik, A., Kokkali, G., Rienzi, L., et al. (2011) PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod 26:1925-35
12. Friedrich, U., Houman, M., Sandgaard, J., Rosgaard, A., and Sunde L. (2000) Microdissection of chromosome 2-between-Arm intrachromosomal insertion. Eur J Hum Genet 8:393-5
13. Gardner, R.J.M. and Sutherland, G.R. (1996) Inversions. In: Anonymous Chromosome Abnormalities and Genetic Counseling. Gardner R.J.M., Sutherland, G.R., Shaffer, L.G., eds. 29Thed. New York: Oxford University Press, pp. 137-58
14. Garver, K.L., Marchese, S.G., Fatora, S.R., and Pan, S.F. (1978) Reproductive outcome in a family withan inherited deletion-insertion chromosome 1. Am J Obstet Gynecol 131:345-6
15. Gutierrez-Mateo, C., Colls, P., Sanchez-Garcia, J., Escudero, T., Prates, R., Ketterson, K., et al. (2011) Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril 95:953-8
16. Hanna, J.S., Shires, P., and Matile, G. (1997) Trisomy 1 in a clinically recognized pregnancy. Am J Med Genet 68:98
17. Harper, J.C., Wilton, L., Traeger-Synodinos, J., Goossens, V., Moutou, C., SenGupta, S.B., et al. (2012) The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update 18:234-47
18. Jacobs, P.A., Melville, M., Ratcliffe, S., Keay, A.J., and Syme, J. (1974) A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet 37: 359-76
19. Johnson, D.S., Cinnioglu, C., Ross, R., Filby, A., Gemelos, G., Hill M., et al. (2010) Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass. Mol Hum Reprod 16: 944-9
20. Madan, K. and Menko, F.H. (1992) Intrachromosomal insertions: a case report and a review. Hum Genet 89:1-9
21. Madan, K. and Nieuwint, A.W. (2002) Reproductive risks for paracentric inversion heterozygotes: inversion or insertion? That is the question. Am J Med Genet 107:340-3
22. Melotte, C., Debrock, S., D'Hooghe, T., Fryns, J.P., and Vermeesch, J.R. (2004) Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod 19:2777-83
23. Mir, P., Rodrigo, L., Mercader, A., Buendia, P., Mateu, E., Milan-Sanchez, M., et al. (2013) False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3. J Assist Reprod Genet 30:143-9
24. Palmer, C.G., Christian, J.C., and Merritt AD. (1977) Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus. Am J Hum Genet 29:371-7
25. Pan, S.F., Fatora, S.R., Sorg, R., Garver, K.L., and Steele, M.W. (1977) Meiotic consequences of an intrachromosomal insertion of chromosome No 1: a family pedigree. Clin Genet 12:303-13
26. Pramparo, T., de Gregori, M., Gimelli, S., Ciccone, R., Frondizi, D., Liehr, T., et al. (2008) A 7 Mb duplication at 22q13 in a girl withbipolar disorder and hippocampal malformation. Am J Med Genet A 146A:1754-60
27. Rubio, C., Bellver, J., Rodrigo, L., Bosch, E., Mercader, A., Vidal C., et al. (2013) Preimplantation genetic screening using fluorescence in situ hybridization in patients withrepetitive implantation failure and advanced maternal age: two randomized trials. Fertil Steril 99: 1400-7
28. Schinzel, A. (1979) Possible trisomy 1q25 leads to 1q32 in a malformed girl witha de novo insertion in 1q. Hum Genet 49:167-73
29. Simopoulou, M., Harper, J.C., Fragouli, E., Mantzouratou, A., Speyer, B.E., Serhal, P., et al. (2003) Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples withchromosomal rearrangements. Prenat Diagn 23:652-62
30. Treff, N.R., Northrop, L.E., Kasabwala, K., Su, J., Levy, B., and Scott Jr, R.T., (2011) Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril 95:1606-12
31. Wang, J.C., Dang, L., and Fisker, T. (2010) Chromosome 6 between-Arm intrachromosomal insertion withintrasegmental double inversion: A four-break model. Am J Med Genet A 152A:209-11
32. Wilson, B.T., Newby, R., Watts, K., Hellens, S.W., Zwolinski, S.A., and Splitt, M.P. (2012) A case of mosaic trisomy 19q12-q13.2 withhigh BMI, macrocephaly, and speech delay: Does USF2 determine size in the 19q phenotypes? Clin Dysmorphol 21:33-6
33. Wilton L. (2002) Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: A review. Prenat Diagn 22: 512-18
34. Xanthopoulou, L., Mantzouratou, A., Mania, A., Cawood, S., Doshi, A., Ranieri, D.M., et al. (2010) Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis. Mol Cytogenet 3:2
35. Zuffardi, O., Tiepolo, L., Scappaticci, S., Francesconi, D., Bianchi, C., and di Natale, D. (1977) Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation. Ann Genet 20:191-4