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

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.

[1]  L. Pavone,et al.  Partial trisomy 12q: report of a case and review. , 1981, Journal of medical genetics.

[2]  A. Daniel.  Structural differences in reciprocal translocations , 1979, Human Genetics.

[3]  G. Neri,et al.  Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. , 1985, American journal of medical genetics.

[4]  J. Davis,et al.  Balanced reciprocal translocations: risk factors for aneuploid segregant viability , 1985, Clinical genetics.

[5]  S. Roberts,et al.  Adjacent 2 meiotic disjunction. Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature , 1981, Human Genetics.

[6]  I. L. Pajares,et al.  Familial translocation t(10;21)(q22;q22) , 1979, Human Genetics.

[7]  A. Chapelle,et al.  Segregating Reciprocal (4;21) (q21;q21) Translocation with Proposita Trisomic for Parts of 4q and 21 , 1973, Journal of medical genetics.

[8]  J. Hemet,et al.  [Trisomy 9p by mat. t(2;9)(q36;q31)]. , 1977, Annales de genetique.

[9]  M. Rethoré,et al.  Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations , 1976, Clinical genetics.

[10]  R. Verma,et al.  Partial duplication for the short arm of chromosome 2 : the 2p23 to pter syndrome. , 1982, Annales de genetique.

[11]  J Stene.  Comments on estimations of risks to translocation carriers. , 1989, American journal of medical genetics.

[12]  K. Hirschhorn,et al.  Precise identification of various chromosomal abnormalities , 1973, Annals of human genetics.

[13]  Iscn.  International System for Human Cytogenetic Nomenclature , 1978 .

[14]  J. Allanson,et al.  Familial translocation t(9;16). , 1989, Journal of medical genetics.

[15]  J. Hamerton.  The cytogenetics of mammalian autosomal rearrangements. , 1989 .

[16]  C. Blank,et al.  Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9 , 1975, Clinical genetics.

[17]  F. Giraud,et al.  La trisomie 4p , 1975, Humangenetik.

[18]  A. Schinzel,et al.  Trisomy 9p due to paternal translocation, t(9;13)(q13;q12) , 1975, Humangenetik.

[19]  A. Boué,et al.  A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses , 1984, Prenatal diagnosis.

[20]  J. Hamerton,et al.  Tertiary trisomy 14: is there a syndrome? , 1976, Birth defects original article series.

[21]  I. Uchida,et al.  PARTIAL TRISOMY-DEFICIENCY SYNDROME RESULTING FROM A RECIPROCAL TRANSLOCATION IN A LARGE KINDRED. , 1964, Cytogenetics.

[22]  F. Prieto,et al.  Two reciprocal translocations t(9p+;13q−) and t(13q−;21q+) , 1980, Human Genetics.

[23]  J. Sills,et al.  Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. , 1976, Journal of medical genetics.

[24]  G. Neri,et al.  Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families , 1983 .

[25]  G. Holmquist,et al.  Chromosome bands, their chromatin flavors, and their functional features. , 1992, American journal of human genetics.

[26]  A. Boué,et al.  Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the european collaborative prenatal diagnosis centres , 1986, Prenatal diagnosis.

[27]  B. Sele,et al.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations. , 1979, Journal of medical genetics.

[28]  B. Sele,et al.  Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing , 1980, Human Genetics.

[29]  J. Demongeot,et al.  Human reciprocal translocations: is the unbalanced mode at birth predictable? , 1993, Human Genetics.

[30]  J. Nielsen,et al.  Autosomal reciprocal translocations and 13/14 translocations: A population study , 1976, Clinical genetics.

[31]  J. Murken,et al.  New chromosomal dysmorphic syndromes , 1981, European Journal of Pediatrics.

[32]  T. Mattina,et al.  Partial trisomy 12 q : report of a case and review , 2022 .

[33]  J. Berns,et al.  Duplication 6q syndrome. , 1979, American journal of medical genetics.

[34]  J. German,et al.  De novo appearance of a translocation t(5p; 2Iq), and its transmission in both balanced and unbalanced forms to the next generation. , 1976, Annales de genetique.

[35]  J. Stene,et al.  Experiences with risk estimates for carriers of chromosomal reciprocal translocations , 1992, Clinical genetics.

[36]  U. Francke.  An International System for Human Cytogenetic Nomenclature — High-Resolution Banding (1981): ISCN (1981) , 1981 .

[37]  P. Kaiser,et al.  Nondisjunction of a translocation-chromosome t(4;13) , 2004, Human Genetics.

[38]  B. Crandall,et al.  A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child. , 1978, Annales de genetique.

[39]  M. Zankl,et al.  The dermatoglyphic pattern of the trisomy 9p syndrome , 1979, Clinical genetics.

[40]  S. McManus,et al.  A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. , 1986, American journal of medical genetics.

[41]  J. Rary,et al.  Translocation 9q/13q resulting in duplication (trisomy 9pter→9q22) and deficiency (monosomy 13pter→13q12) , 1977 .

[42]  J. Fryns,et al.  Excess of mental retardation and/or congenital malformation in reciprocal translocations in man , 2004, Human Genetics.

[43]  B. Dutrillaux,et al.  [T (14q-; 21q + ) translocation in the father. Partial trisomy 14 and monosomy 21 in the daughter]. , 1973, Annales de genetique.