Literature DB >> 8112744

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

O Cohen1, C Cans, M A Mermet, J Demongeot, P Jalbert.   

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.

Mesh：

Year:  1994        PMID： 8112744     DOI： 10.1007/bf00210608

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  41 in total

1.  Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9.

Authors:  C E Blank; D C Colver; A M Potter; J McHugh; J Lorber
Journal:  Clin Genet       Date:  1975-04       Impact factor: 4.438

2.  PARTIAL TRISOMY-DEFICIENCY SYNDROME RESULTING FROM A RECIPROCAL TRANSLOCATION IN A LARGE KINDRED.

Authors:  I A UCHIDA; H C WANG; O E LAXDAL; W A ZALESKI; B P DUNCAN
Journal:  Cytogenetics       Date:  1964

3.  Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Humangenetik       Date:  1975-12-23

4.  Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the European Collaborative Prenatal Diagnosis Centres.

Authors:  A Daniel; A Boué; P Gallano
Journal:  Prenat Diagn       Date:  1986 Sep-Oct       Impact factor: 3.050

5.  Precise identification of various chromosomal abnormalities.

Authors:  K Hirschhorn; M Lucas; I Wallace
Journal:  Ann Hum Genet       Date:  1973-04       Impact factor: 1.670

6.  Structural differences in reciprocal translocations. Potential for a model of risk in Rcp.

Authors:  A Daniel
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

7.  The dermatoglyphic pattern of the trisomy 9p syndrome.

Authors:  A Rodewald; S Stengel-Rutkowski; M Zankl
Journal:  Clin Genet       Date:  1979-12       Impact factor: 4.438

8.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families.

Authors:  G Neri; A Serra; M Campana; B Tedeschi
Journal:  Am J Med Genet       Date:  1983-12

10.  An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature.

Authors: 
Journal:  Cytogenet Cell Genet       Date:  1981
View more
  7 in total

1.  HC Forum: a web site based on an international human cytogenetic database.

Authors:  O Cohen; M A Mermet; J Demongeot
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

2.  Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier.

Authors:  Nathalie Rives; Marion Jarnot; Nathalie Mousset-Siméon; Géraldine Joly; Bertrand Macé
Journal:  J Hum Genet       Date:  2003-10-02       Impact factor: 3.172

3.  Bayesian Assessment of Genetic Risk in Families with a Balanced Translocation.

Authors:  Douglas VanDerwerken
Journal:  J Genet Couns       Date:  2015-02-04       Impact factor: 2.537

Review 4.  Genetic counseling prior to assisted reproductive technology.

Authors:  Yukiko Katagiri; Yuko Tamaki
Journal:  Reprod Med Biol       Date:  2020-12-31

5.  Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier.

Authors:  Anna Mantzouratou; Anastasia Mania; Marianna Apergi; Sarah Laver; Paul Serhal; Jda Delhanty
Journal:  Mol Cytogenet       Date:  2009-01-23       Impact factor: 2.009

6.  Prenatal diagnosis and postnatal followup of partial trisomy 13q and partial monosomy 10p: a case report and review of the literature.

Authors:  Yuan Wei; Xuefeng Gao; Liying Yan; Fang Xu; Peining Li; Yangyu Zhao
Journal:  Case Rep Genet       Date:  2012-10-23

7.  Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles?

Authors:  Elsbeth Dul; Jannie van Echten-Arends; Henk Groen; Peter Kastrop; Lucie Amory-van Wissen; John Engelen; Jolande Land; Edith Coonen; Conny van Ravenswaaij-Arts
Journal:  J Clin Med       Date:  2014-04-02       Impact factor: 4.241
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.