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Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations

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Abstract

From a data base of 1,590 independent families with autosomal reciprocal translocations, 1,159 viable unbalances were studied and the lengths of their trisomy/ monosomy segments measured according to the method proposed by Daniel. About 5% of cases were found not to comply with Daniel viability criteria. The thresholds of viability vary with the mode of unbalance and with the sex of the carrier. Thus, new viability criteria are proposed as a guide for genetic counseling and prenatal diagnosis.

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References

  • Bass HN, Sparkes RS, Crandall BF, Galos KJ, Howard J (1978) A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child. Ann Génét 21:56–59

    Google Scholar 

  • Blank CE, Colver DCB, Potter AM, McHugh J, Lorber J (1975) Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9. Clin Genet 7:261–273

    Google Scholar 

  • Boué A, Gallano P (1984) A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 4:45–67

    Google Scholar 

  • Byrne JLB, Brooks PK, Clayton SS, Buben SK, Dev VG (1981) Partial trisomy 5p and partial trisomy 8(pter→q11:) in a patient as a result of maternal 3∶1 meiotic segregation. Am J Hum Genet 33:99A

  • Cans C, Cohen O, Mermet MA, Demongeot J, Jalbert P (1993) Human reciprocal translocations: is the unbalanced mode at birth predictable? Hum Genet 91:228–232

    Google Scholar 

  • Chaganti RSK, Morillo-Cucci G, Friis L, Degnan M, German J (1976) De novo appearance of a translocation t(5p;21q), and its transmission in both balanced and unbalanced forms to the next generation. Ann Génét 19:43–48

    Google Scholar 

  • Chapelle A de la, Koivisto M, Schröder J (1973) Segregating reciprocal (4;21)(q21;q21) translocation with the proposita trisomic for parts of 4q and 21. J Med Genet 10:384–389

    Google Scholar 

  • Coco R, Rey G (1978) Partial trisomy 13q inherited from balanced translocation (5;13)(p14;q13). J Genet Hum 26:303–310

    Google Scholar 

  • Cohen O, Simonet M, Cans C, Mermet MA, Demongeot J, Jalbert P (1992) RCPc: a new computer system for genetic counseling in human reciprocal translocations. Ann Genet 35:193–201

    Google Scholar 

  • Daniel A (1979) Structural differences in reciprocal translocations. Potential for a model of risk in reciprocal translocations. Hum Genet 51:171–182

    Google Scholar 

  • Daniel A, Boué A, Gallano P (1986) Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the European collaborative prenatal diagnostic centers. Prenat Diagn 6:315–350

    Google Scholar 

  • Daniel A, Hook EB, Wulf G (1988) Collaborative USA data on prenatal diagnosis for prenatal carriers of chromosome rearrangements: risks of unbalanced progeny. In: Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Alan R Liss, New York, pp 73–162

    Google Scholar 

  • Davis JR, Rogers BB, Hagaman RM, Thies CA, Veomett IC (1985) Balanced reciprocal translocations: risk factors of aneuploid segregant viability. Clin Genet 27:1–19

    Google Scholar 

  • De Arce M, Grace PM, McManus M (1986) A computer model for the study of segregation in reciprocal translocation carriers: application to 20 cases. Am J Med Genet 24:519–525

    Google Scholar 

  • Delicado A, Lopez Pajares I, Vicente P, Hawkins F (1979) Familial translocation t(10;21)(q22;q22). Hum Genet 50:253–258

    Google Scholar 

  • Duckett DP, Roberts SH (1981) Adjacent 2 meiotic disjunction. Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and a review of the literature. Hum Genet 58:377–386

    Google Scholar 

  • Fryns JP, Kleczkowska A, Kubien E, Berghe H van den (1986) Excess of mental retardation and/or congenital malformation in reciprocal translocations in man. Hum Genet 72:1–8

    Google Scholar 

  • Gilgenkrantz S, Bugnon C, Bresson JL, Gouget A, Dulucq Ph (1980) Maternal translocation (5; 10) identified only after amniocentesis in a second pregnancy with 10q+ fetus (partial trisomy 5q). Clin Genet 17:49–96

    Google Scholar 

  • Giaraud F, Mattei JF, Mattei MG, Ayme S, Bernard R (1975) La trisomie 4p. Hum Genet 30:99–108

    Google Scholar 

  • Hirschhorn K, Lucas M, Wallace I (1973) Precise identification of various chromosomal abnormalities. Ann Hum Genet 36:375–379

    Google Scholar 

  • Holmquist GP (1992) Review article: chromosome bands, their chromatin flavors, and their functional features. Am J Hum Genet 51:13–17

    Google Scholar 

  • Howard-Peebles PN, Yarbrough KM, Stoddard GR, Rary JM (1977) Translocation 9q/13q resulting in duplication (trisomy 9pter→9q22) and deficiency (monosomy 13pter→13q12). Clin Genet 11:46–52

    Google Scholar 

  • ISCN (1981) An international system for human cytogenetic nomenclature — high resolution banding. Cytogenet Cell Genet 11:88–94

    Google Scholar 

  • Jalbert P, Sèle B (1979) Factors predisposing to adjacent 2 and 3∶1 disjunctions: study of 161 human reciprocal translocations. J Med Genet 16:467–478

    Google Scholar 

  • Jalbert P, Sèle B, Jalbert H (1980) Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene diagram drawing. A study of 151 human translocations. Hum Genet 55:209–222

    Google Scholar 

  • Jalbert P, Jalbert H, Sèle B (1988) Types of imbalances in human reciprocal translocations: risk at birth. In: Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Alan R Liss, New York, pp 267–291

    Google Scholar 

  • Laurent C, Dutrillaux B, Biemont MCl, Genoud J, Bethenod M (1973) Translocation t(14q-,21q+) chez le père. Trisomie 14 et monosomie 21 partielles chez la fille. Ann Génét 16:281–284

    Google Scholar 

  • Midro AT, Stengel-Rutkowski S, Stene J (1992) Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin Genet 41:113–122

    Google Scholar 

  • Moirot H, Fessard Cl, Hémet J (1977) Trisomie 9p par t(2;9) (q36;q31) mat. Ann Géné 20:45–51

    Google Scholar 

  • Neri G, Serra A, Campana M, Tedeschi B (1983) Reproductive risks for translocation carriers: cytogenetics study and analysis of pregnancy outcome in 58 families. Am J Med Genet 16:535–561

    Google Scholar 

  • Nielsen J, Rasmussen K (1976) Autosomal reciprocal translocations and 13/14 translocations: a population study. Clin Genet 10:161–177

    Google Scholar 

  • Noel B, Quack B, Rethoré MO (1976) Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin Genet 9:593–602

    Google Scholar 

  • Obry E, Piussan Ch, Risbourg B, Dutrillaux B (1980) Trisomie partielle (10pter→10q21) et monosomie partielle (21pter→ 21q21) dues à une translocation réciproque familiale équilibrée (10;21) (q21;q21). Ann Genet 23:216–220

    Google Scholar 

  • Pena SDJ, Ray M, McAlpine PJ, Ducasse C, Briggs J, Hamerton JL (1976) Tertiary trisomy 14: is there a syndrome? Birth Defects 12:119–124

    Google Scholar 

  • Prieto F, Badia L, Asensi F, Roques V (1980) Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+). A study of the families. Hum Genet 54:7–11

    Google Scholar 

  • Ray M, Hunter AGW, Sachdeva RK, Christie N (1979) Partial trisomy 14 with a 46,XY,-13,+der(14),t(13;14)(q12;q22) mat karyotype. Ann Genet 22:47–49

    Google Scholar 

  • Rethoré MO, Dutrillaux B, Lejeune J (1973) Translocation 46,XX, t(15;21)(q13;q22,1) chez la mère de deux enfants atteints de trisomie 15 et de monosomie 21 partielles. Ann Génét 16:271–275

    Google Scholar 

  • Roberts Sh, Mattina T, Laurence KM, Sorge G, Pavone L (1981) Partial trisomy 12q: report of a case and review. J Med Genet 18:470–473

    Google Scholar 

  • Rodewald A, Stengel-Rutkowski S, Zankl M (1979) The dermatoglyphic pattern of the trisomy 9p syndrome. Clin Genet 16:405–417

    Google Scholar 

  • Rosenfeld W, Verma RS, Jhaveri R, Dosik H, Evans H (1982) Partial duplication for the short arm of chromosome 2: the 2p23-pter syndrome. Ann Génét 25:28–31

    Google Scholar 

  • Schinzel A, Hayashi K, Schmid W (1975) Trisomy 9p due to paternal translocation, t(9;13)(q13;q12). Hum Genet 30:307–316

    Google Scholar 

  • Sills JA, Buckton KE, Raeburn JA (1976) Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. J Med Genet 13:507–510

    Google Scholar 

  • Stene J (1989) Comments on estimations of risks to translocation carriers. Am J Med Genet 33:54–57

    Google Scholar 

  • Stengel-Rutkowski S, Albert A, Murken JD, Zahn-Messow K, Rodewald A, Zankl M, Saule H, Stene J (1981) New chromosomal dysmorphic syndromes 4, trisomy 12p. Eur J Pediatr 136:249–262

    Google Scholar 

  • Stengel-Rutkowski S, Stene J, Gallano P (1988) Risk estimated in balanced parental reciprocal translocations. In: Expansion scientifique française (ed). Monographie des annales de génétique, Paris, pp 84–98

  • Tipton RE, Berns JS, Johnson WE, Wilroy RS, Summitt RL (1979) Duplication 6q syndrome. Am J Med Genet 3:325–330

    Google Scholar 

  • Uchida IA, Wang HC, Laxdal OE, Zaleski WA, Duncan BP (1964) Partial trisomy-deficiency syndrome resulting from a reciprocal translocation in a large kindred. Cytogenetics 3:81–96

    Google Scholar 

  • Westmeier M, Kaiser P, Hellwig-Beato W, Steuber ED, Körver G, Ribhegge (1981) Nondisjunction of a translocation-chromosome t(4;13). Hum Genet 59:337–341

    Google Scholar 

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Authors and Affiliations

  1. Genetics Laboratory, Medical School, Joseph Fourier University of Grenoble, F-38706, La Tronche Cedex, France

    Olivier Cohen, Marie-Ange Mermet & Pierre Jalbert

  2. Department of Statistics and Computer Sciences, Medical School, Joseph Fourier University of Grenoble, F-38706, La Tronche Cedex, France

    Christine Cans & Jacques Demongeot

Authors
  1. Olivier Cohen
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  2. Christine Cans
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  3. Marie-Ange Mermet
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  4. Jacques Demongeot
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  5. Pierre Jalbert
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Cohen, O., Cans, C., Mermet, MA. et al. Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations. Hum Genet 93, 188–194 (1994). https://doi.org/10.1007/BF00210608

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  • DOI: https://doi.org/10.1007/BF00210608

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