Zorrilla M, Yatsenko AN (2013) The genetics of infertility: current status of the field. Curr Genet Med Rep 1(4):247–260
Article
Google Scholar
Krausz C, Cioppi F, Riera-Escamilla A (2018) Testing for genetic contributions to infertility: potential clinical impact. Expert Rev Mol Diagn 18(4):331–346
Article
CAS
PubMed
Google Scholar
Liang P, Zeng Y, Yin B, Lin Q, Cai J, Zhang W (2009) Study on the incidence of chromosomal abnormalities in 10325 infertility patients who resort to IVF/ICSI. Fertil Steril 92(3):S14–S15
Article
Google Scholar
Alkhalaf M, Al-Shoumer K (2010) Cytogenetic abnormalities and azoospermia factor (AZF) microdeletions in infertile men from Kuwait. J Mol Genet Med 4:232–234
Article
CAS
PubMed
PubMed Central
Google Scholar
Elghezal H, Hidar S, Braham R, Denguezli W, Ajina M, Saâd A (2006) Chromosome abnormalities in one thousand infertile males with nonobstructive sperm disorders. Fertil Steril 86(6):1792–1795
Article
PubMed
Google Scholar
Raziel A, Friedler S, Schachter M, Kasterstein E, Strassburger D, Ron-El R (2002) Increased frequency of female partner chromosomal abnormalities in patients with high-order implantation failure after in vitro fertilization. Fertil Steril 78(3):515–519
Article
PubMed
Google Scholar
Yatsenko AN, Yatsenko SA, Weedin JW, Lawrence AE, Patel A, Peacock S, Matzuk MM, Lamb DJ, Cheung SW, Lipshultz LI (2010) Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men. J Urol 183(4):1636–1642
Article
PubMed
PubMed Central
Google Scholar
Ravel C, Berthaut I, Bresson JL, Siffroi JP, Genetics Commission of the French Federation of CECOS (2006) Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10 000 sperm donor karyotypes. Hum Reprod 21(6):1484–1489
Article
CAS
PubMed
Google Scholar
Babakhanzadeh E, Nazari M, Ghasemifar S, Khodadadian A (2020) Some of the factors involved in male infertility: a prospective review. Int J Gen Med 13:29–41
Article
CAS
PubMed
PubMed Central
Google Scholar
Vicdan A, Vicdan K, Günalp S, Kence A, Akarsu C, Işik AZ, Sözen E (2004) Genetic aspects of human male infertility: the frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility. Eur J Obstet Gynecol Reprod Biol 117(1):49–54
Article
CAS
PubMed
Google Scholar
Ceylan GG, Ceylan C, Elyas H (2009) Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study. Genet Mol Res 8(3):915–922
Article
CAS
PubMed
Google Scholar
Balkan M, Tekes S, Gedik A (2008) Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet 25(11–12):559–565
Article
CAS
PubMed
PubMed Central
Google Scholar
Nagvenkar P, Desai K, Hinduja I, Zaveri K (2005) Chromosomal studies in infertile men with oligozoospermia & non-obstructive azoospermia. Indian J Med Res 122(1):34–42
PubMed
Google Scholar
Ng PP, Tang MH, Lau ET, Ng LK, Ng EH, Tam PC, Yeung WS, Ho PC (2009) Chromosomal anomalies and Y-microdeletions among Chinese subfertile men in Hong Kong. Hong Kong Med J 15(1):31–38
PubMed
Google Scholar
Zhou-Cun A, Yang Y, Zhang SZ, Zhang W, Lin L (2006) Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe Oligozoo-spermia. Acta Genet Sin 33(2):111–116
Article
CAS
PubMed
Google Scholar
Chiang HS, Wei HJ, Chen YT (2000) Genetic screening for patients with azoospermia and severe oligo-asthenospermia. Int J Androl 23(S2):20–25
Article
PubMed
Google Scholar
Colaco S, Modi D (2018) Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol 16(1):14
Article
CAS
PubMed
PubMed Central
Google Scholar
Venkatesh T, Suresh PS, Tsutsumi R (2014) New insights into the genetic basis of infertility. Appl Clin Genet 7:235–243
PubMed
PubMed Central
Google Scholar
Shay JW, Homma N, Zhou R, Naseer MI, Chaudhary AG, Al-Qahtani M et al (2016) Abstracts from the 3rd international genomic medicine conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015. BMC Genomics 17(Suppl 6):487
Article
PubMed Central
Google Scholar
Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr, ESHG, ESHRE and EuroGentest2 (2014) Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. Hum Reprod 29(8):1603–1609
Article
PubMed
Google Scholar
El-Gilany AH, Yahia S, Wahba Y (2017) Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study. Ann Saudi Med 37(5):386–392
Article
PubMed
PubMed Central
Google Scholar
Rooney DE, Czepulkowski BH (1997) In: Rickwood D (ed) Human chromosome preparation, essential techniques series. Department of Biological and Chemical sciences, University Press, London, pp 37–38
Google Scholar
Zhao P, Gu X, Wu H, Deng X (2019) Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China. J Int Med Res 47(3):1114–1123
Article
CAS
PubMed
PubMed Central
Google Scholar
Radojcić Badovinac A, Buretić-Tomljanović A, Starcević N, Kapović M, Vlastelić I, Randić L (2000) Chromosome studies in patients with defective reproductive success. Am J Reprod Immunol 44(5):279–283
Article
PubMed
Google Scholar
Butnariu L, Covic M, Onofriescu M, Grămescu M, Bujoran C, Caba L, Gorduza EV (2010) Chromosomal evaluation in couples with reproductive disorders--retrospective study of a selected group of 266 couples. Rev Med Chir Soc Med Nat Iasi 114(4):1107–1113
PubMed
Google Scholar
Pylyp LY, Spinenko LO, Verhoglyad NV, Kashevarova OO, Zukin VD (2015) Chromosomal abnormalities in patients with infertility. Tsitol Genet 49(3):33–39
CAS
PubMed
Google Scholar
Meza-Espinoza JP, Anguiano LO, Rivera H (2008) Chromosomal abnormalities in couples with reproductive disorders. Gynecol Obstet Investig 66(4):237–240
Article
Google Scholar
Jesus AR, Silva-Soares S, Silva J, Severo M, Barros A, Dória S (2019) Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities. J Assist Reprod Genet 36(7):1471–1479
Article
PubMed
PubMed Central
Google Scholar
Mierla D, Malageanu M, Tulin R, Albu D (2015) Prevalence of chromosomal abnormalities in infertile couples in Romania. Balkan J Med Genet 18(1):23–30
Article
CAS
PubMed
PubMed Central
Google Scholar
Tiboni GM, Verna I, Giampietro F, Leonzio E, Impicciatore GG (2011) Cytogenetic findings and reproductive outcome of infertile couples referred to an assisted reproduction program. Gynecol Endocrinol 27(9):669–674
Article
PubMed
Google Scholar
Azimi C, Khaleghian M, Farzanfar F (2013) A retrospective chromosome studies among Iranian infertile women: report of 21 years. Iran J Reprod Med 11(4):315–324
PubMed
PubMed Central
Google Scholar
Mierla D, Jardan D, Stoian V (2014) Chromosomal abnormality in men with impaired spermatogenesis. Int J Fertil Steril 8(1):35–42
PubMed
PubMed Central
Google Scholar
Berglund A, Stochholm K, Gravholt CH (2020) The epidemiology of sex chromosome abnormalities. Am J Med Genet C: Semin Med Genet 184(2):202–215
Article
Google Scholar
Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA (2014) Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients. Fertil Steril 101(4):950–955
Article
PubMed
Google Scholar
Xie C, Chen X, Liu Y, Wu Z, Ping P (2018) Multicenter study of genetic abnormalities associated with severe oligospermia and non-obstructive azoospermia. J Int Med Res 46(1):107–114
Article
CAS
PubMed
Google Scholar
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E (2004) Klinefelter’s syndrome. Lancet 364(9430):273–283
Article
CAS
PubMed
Google Scholar
Paduch DA, Fine RG, Bolyakov A, Kiper J (2008) New concepts in Klinefelter syndrome. Curr Opin Urol 18(6):621–627
Article
PubMed
Google Scholar
Bellovits O, Rusz A, Romics I, Csonka E, Hadlaczky G, Sótonyi P, Bujdosó G (2006) Chromosomal aneuploidy in azoospermic men. Int J Hum Genet 6(2):171–176
Article
Google Scholar
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P (2011) 48, XXYY, 48, XXXY and 49, XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr 100(6):851–860
Article
PubMed
PubMed Central
Google Scholar
Woo HY, Cho HJ, Kong SY, Kim HJ, Jeon HB, Kim EC, Park H, Kim YJ, Kim SH (2003) Marker chromosomes in Korean patients: incidence, identification and diagnostic approach. J Korean Med Sci 18(6):773–778
Article
PubMed
PubMed Central
Google Scholar
Kayed HF, Mansour RT, Aboulghar MA, Serour GI, Amer AE, Abdrazik A (2006) Screening for chromosomal abnormalities in 2650 infertile couples undergoing ICSI. Reprod BioMed Online 12(3):359–370
Article
PubMed
Google Scholar
Holland CM (2001) 47, XXX in an adolescent with premature ovarian failure and autoimmune disease. J Pediatr Adolesc Gynecol 14(2):77–80
Article
CAS
PubMed
Google Scholar
Kalavathi V, Chandra N, Nambiar GR, Shanker J, Sugunashankari P, Meena J, Jegatheesan T, Santhiya ST, Ramesh A, Gopinath PM, Marimuthu KM (2010) Chromosomal abnormalities in 979 cases of amenorrhea: a review. Int J Hum Genet 10(1–3):65–69
Article
Google Scholar