Summary
Cytogenetic studies have been performed in 1068 couples with antecedent fetal wastage, i.e., at least two spontaneous first trimester abortions or one spontaneous first trimester abortion and one late fetal death, particularly with multiple congenital malformations.
Three major types: 33 reciprocal translocations (3.09%), 20 Robertsonian translocations (1.87%) and six other chromosomal abnormalities (0.56%) were found, bringing the total number of chromosomal abnormalities to 59 (5.5%) in 1068 couples under investigation.
In contrast to couples with reciprocal translocations, a high excess of female over male carriers was found in the group of Robertsonian translocations.
In the evaluation of chromosomal polymorphisms, only variants with particularly large paracentromeric constitutive heterochromatin blocks were taken into account, and their low frequency in the present study is therefore not comparable with that in a general population.
The impact of further extensive familial investigation on genetic counseling and the follow-up of prenatal diagnosis are discussed.
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Adžzić S, Marković S, Mijin K, Stolević E, Šuloci v V, Vidaković B (1981) Les recherches cytogénétiques chez les sujets ayant des échecs de la reproduction. J Gyn Obst Biol Rep 10:371–374
Aurias A, Prieur M, Dutrillaux B, Lejeune J (1978) Systematic analysis of 95 reciprocal translocations of autosomes. Hum Genet 45:259–282
Blumberg BD, Shulkin JD, Rotter J, Mohandas T, Kaback MM (1982) Minor chromosomal variants and major chromosomal anomalies in couples with recurrent abortion. Am J Hum Genet 34:948–960
Bortotto L, Baccichetti C, Lenzini E, Tenconi R, Delendi N, Caufin D (1980) Cytogenetic survey of couples with habitual abortion and other reproductive wastage. Clin Genet 17:56–57
Boué A, Boué J (1981) Chromosome structural rearrangements and reproductive failure. Chromosomes-today 7:281–290
Boué J, Taillemite JL, Hazael-Massieux P, Leonard C, Boué A (1975) Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families. Hum Genet 30:217–224
Boué J, Barichard F, Deluchat C (1981) Diagnostic prénatal des anomalies de la structure chromosomique. Nouv Presse Med 10:3299–3302
Breuker KH, Winkhaus-Schindl I, Citoler P (1978) Chromosomenanomalien bei Ehepaaren mit wiederholten Aborten. Geburtsh u Frauenheilk 38:11–17
Chandley AC (1981) The origin of chromosomal aberrations in man and their potential for survival and reproduction in the adult human population. Ann Genet 24:5–11
Chapelle A de la, Schröder J, Stenstrand K, Fellman J, Herva R, Saarni M, Anttolainen J, Tallila J, Tervilä L, Husa L, Tallqvist G, Robson EB, Cook PJL, Sanger R (1974) Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet 26:746–766
Davis JR, Weinstein L, Veomett JC, Shenker L, Giles HR, Hauck L (1982) Balanced translocation karyotypes in patients with repetitive abortion. Am J Obstet Gynecol 144:229–233
Duca D, Cioltei A, Ioan D, Maximilian C (1979) The importance of cytogenetic investigation of the couples with multiple spontaneous abortions and malformed offsprings. Endocrinology 17:17–22
Dutrillaux B, Lejeune J (1970) Etude de la descendance des individus porteurs d'une translocation t(Dq;Dq). Ann Génét 13:11–18
Ford JH, Callen DF, Jahnke B, Roberts CG (1982) Within pair differences of human chromosome 9C-bands associated with reproductive loss. Hum Genet 61:360–363
Fraccaro M (1980) Cytogenetics of human male infertility. Clin Genet 17:65–66
Fraccaro M, Maraschio P, Pasquali F, Tiepolo L, Zuffardi O, Giarola A (1973) Male infertility and 13/14 translocation. Lancet 1:488
Fryns JP, De Boeck K, Jaeken J, Van den Berghe H (1978) Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome. Hum Genet 43:239–244
Fryns JP, Kleczkowska A, Petit P, Van den Berghe H (1982a) Fertility in patients with X chromosome deletions. Clin Genet 22:76–79
Fryns JP, Kleczkowska A, Van den Berghe H (1982b) Small accessory chromosomes (SAC) and their genotype-phenotype correlation. J Génét Hum 30:199–214
Fryns JP, Van den Berghe H (1980) Paracentric inversion in man: Personal experience and review of the literature. Hum Genet 54:413–416
Fryns JP, Van den Berghe H, Van Herck G, Cassiman JJ (1974) Trisomy 12q due to familial t(12p-6q+) translocation. Hum Genet 24:247–253
Fryns JP, Van der Hauwaert L, Dumoulin M, Van den Berghe H (1979) New chromosomal syndrome. Acta Paediatr Belg 32:217–219
Funderburk SJ, Sparkes RS, Klisak I (1979) Phenotypic variation in two patients with a ring chromosome 22. Clin Genet 16:305–310
Hahn S, Kim DS (1981) Cytogenetic studies of the leukocytes of couples with habitual abortions. Yonsei Med J 22:59–70
Hemming L, Burns C (1979) Heterochromatic polymorphism in spontaneous abortions. J Med Genet 16:358–362
Heritage DW, English SC, Young RB, Chen ATL (1978) Cytogenetics of recurrent abortions. Fertil Steril 29:414–417
Holbek S, Friedrich U, Lauritsen JG, Therkelsen AJ (1974) Marker chromosomes in parents of spontaneous abortuses. Hum Genet 25:61–64
Husslein P, Huber J, Wagenbichler P, Schnedl W (1982) Chromosome abnormalities in 150 couples with multiple spontaneous abortions. Fertil Steril 37:372–383
Jacobs PA, Buckton KE, Cunningham C, Newton M (1974) An analysis of the breakpoints of structural rearrangements in man. J Med Genet 11:50–64
Kajii T, Ferrier A (1978) Cytogenetics of aborters and abortuses. Am J Obstet Gynecol 131:33–38
Kardon NB, Davis JG, Berger AL, Broekman A (1980) Incidence of chromosomal rearrangements in couples with reproductive loss. Hum Genet 53:161–164
Karetnikova NA, Rozovsky IS, Muravieva MV (1980) Geneticzeskije isledovanja pri privycznom nievynaszivanii bieremiennosti. Akusz Ginekolog 4:42–46
Kedzia H, Pisarski T, Klejewski A (1981) Badania cytogenetyczne u malźeństw z niepowodzeniami poloźniczymi. Gin Pol 52:801–804
Kjessler B (1964) Meiosis in a man with a D/D translocation and clinical sterility. Lancet 1:1421–1423
Klezkowska A, Fryns JP, Van den Berghe H (1982) Complex chromosomal rearrangements (CCR) and their genetic consequences. J Génét Hum 30:199–214
Lippman-Hand A, Vekemans M (1983) Balanced translocations among couples with two or more spontaneous abortions: are males and females equally likely to be carriers. Hum Genet 63:252–257
Lyberatou-Moraitou E, Grigori-Kostaraki P, Retzepopoulou Z, Kosmaidou-Aravidou Z (1983) Cytogenetics of recurrent abortions. Clin Genet 23:294–297
Marmor D, Taillemite JL, Van den Akker J, Portnoi MF, Le Porrier N, Joye N, Delafontaine D, Raix C (1980) Semen analysis in subfertile balanced-translocation carriers. Fertil Steril 34:496–502
Mennuti MT, Jingeleski FS, Schwarz RH, Mellman FW (1978) An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obstet Gynecol 52:308–313
Michels VV, Medrano C, Venne VL, Riccardi VM (1982) Chromosome translocations in couples with multiple spontaneous abortions. Am J Hum Genet 34:507–513
Mićić MD, Nicolis JG, Mićić R (1980) 13/14 translocation in a man with reproductive failure. Hum Genet 55:137–139
Milani-Comparetti M, Catena Q, Donati D, Magistrelli R, Saccucci F (1981) Incidenza della variante 9qh+ in soggetti professionalmente radioesposti ed in casi di patologia riproduttiva. Boll Soc Ital Biol Sper 57:351–354
Neu RL, Entes K, Bannerman RM (1979) Chromosome analysis in cases with repeated spontaneous abortions. Obstet Gynecol 53: 373–375
Nielsen J, Friedrich U, Hreidarsson AB, Zeuthen E (1974) Frequency of 9qh+ and risk of chromosome aberrations in the progeny of individuals with 9qh+. Hum Genet 21:211–216
Nordenson J (1981) Increased frequencies of chromosomal abnormalities in families with a history of fetal wastage. Clin Genet 19:168–173
Osztovics MK, Tóth SP, Wessely JA (1982) Cytogenetic investigations in 418 couples with recurrent fetal wastage. Ann Génét 25:232–236
Pescia G, Jotterand M, Gaide A-C (1979) Fausses-couches précoces itératives et caryotype. Etude cytogénétique de 80 couples consécutifs. J Gyn Obst Biol Rep 8:35–38
Plymate SR, Bremner WJ, Paulsen CA (1976) The association of D-group chromosomal translocations and defective spermatogenesis. Fertil Steril 27:139–144
Rosenmann A, Segal S, Palti Z, Cohen MM (1977) Chromosomes in familial primary sterility and in couples with recurrent abortions and stillbirth. Isr J Med Sci 13:1131–1132
Sant-Cassia LJ, Cooke P (1981) Chromosomal analysis of couples with repeated spontaneous abortions. Br J Obst Gynaecol 88:52–58
Simpson JL, Elias S, Martin AO (1981) Parental chromosomal rearrangements associated with repetitive spontaneous abortions. Fertil Steril 36:584–590
Stenchever MA, Parks KJ, Daines TL, Allen MA, Stenchever MR (1977) Cytogenetics of habitual abortion and other reproductive wastage. Am J Obstet Gynecol 127:143–150
Stoll C (1980) Nonrandom distribution of exchange points in patients with reciprocal translocations. Hum Genet 56:89–93
Stoll C (1981) Cytogenetic findings in 122 couples with recurrent abortions. Hum Genet 57:101–103
Stoll C, Roth MP (1983) Segregation of a 22 ring chromosome in three generations. Hum Genet 63:294–296
Tejada J, Soler A, Salami C, Cararach J, Fortuny A (1980) Chromosomal polymorphic variants in couples with recurrent spontaneous abortions. Clin Genet 17:90
Tho PT, Byrd JR, Donough PGC Mc (1979) Etiologies and subsequent reproductive performance of 100 couples with recurrent abortion. Fertil Steril 32:389–395
Tibiletti MG, Simoni G, Terzoli GL, Romitti L, Fedele L, Candiani GB (1981) Pericentric inversion of chromosome 9 in couples with repeated spontaneous abortion. Acta Eur Fertil 12:245–248
Tsenghi Ch, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N (1981) Parental chromosome translocations and fetal loss. Obstet Gynecol 58:456–458
Tsenghi Ch, Metaxotou-Stavridaki C, Strataki-Benetou M, Kalpini-Mavrou A, Matsaniotis N (1976) Chromosome studies in couples with repeated spontaneous abortions. Obstet Gynecol 47:463–468
Turleau C, Chavin-Colin F, Grouchy J de (1979) Cytogenetic investigation in 413 couples with spontaneous abortions. Eur J Obstet Gynaecol Rep Biol 9:65–74
Ward BE, Henry GP, Robinson A (1980) Cytogenetic studies in 100 couples with recurrent spontaneous abortions. Am J Hum Genet 32:349–554
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Fryns, J.P., Kleczkowska, A., Kubień, E. et al. Cytogenetic survey in couples with recurrent fetal wastage. Hum Genet 65, 336–354 (1984). https://doi.org/10.1007/BF00291558
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DOI: https://doi.org/10.1007/BF00291558