[Genetic risk in cases of reciprocal translocation (author's transl)]. 1978

I W Lurie, and H Presman, and G I Lazjuk

The analysis of 206 families with reciprocal translocations revealed thanks to a patient who was a carrier of an unbalanced translocation demonstrated the risk of a child suffering from the disease at about 16.4%, in the case of a meiotic segregation 2 : 2. In the case of translocation with meiotic segregation 3 : 1, the risk is much less, i.e. 7.6% for female carriers and significantly less than 3/83 for male carriers. It is extremely important to take this difference into account when evaluating the risks during genetic counselling. On the other hand, the freqeuncy of spontaneous abortions is practically the same for carriers of translocations with these two types of segregation and rises to nearly 23%; i.e. the postzygotic selection influences, to the same degree, zygotes with one chromosome too many, one two few, and zygotes with 46 chromosomes, but of which one has a defect or an excess of genetic material. Such selection depends rather on an interaction between the abnormal genome of the zygote (embryo) and the genome of the mother, whilst the prezygotic selection operates against the gametes having one chromosome too many or one too few. A large asymmetry in the length of the exchanged fragments could be one of the causes of the 3 : 1 segregation. This is proved by a more frequent participation (48/60) of the acrocentric chromosomes in the translocations with segregation 3 : 1. On the other hand, in translocations with segregation 2 : 2, acrocentrics are found much more rarely (66/146).

UI MeSH Term Description Entries
D008297 Male Males
D005260 Female Females
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012306 Risk The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. Relative Risk,Relative Risks,Risk, Relative,Risks,Risks, Relative
D012737 Sex Factors Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances. Factor, Sex,Factors, Sex,Sex Factor
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic

Related Publications

I W Lurie, and H Presman, and G I Lazjuk
September 1975, Zeitschrift fur Kinderheilkunde,
I W Lurie, and H Presman, and G I Lazjuk
January 1975, Humangenetik,
I W Lurie, and H Presman, and G I Lazjuk
May 1980, Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics,
I W Lurie, and H Presman, and G I Lazjuk
November 1974, Ceskoslovenska gynekologie,
I W Lurie, and H Presman, and G I Lazjuk
November 1972, Comptes rendus hebdomadaires des seances de l'Academie des sciences. Serie D: Sciences naturelles,
I W Lurie, and H Presman, and G I Lazjuk
January 1998, Hereditas,
I W Lurie, and H Presman, and G I Lazjuk
June 2011, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
I W Lurie, and H Presman, and G I Lazjuk
January 2001, Genetic counseling (Geneva, Switzerland),
I W Lurie, and H Presman, and G I Lazjuk
August 2016, European journal of obstetrics, gynecology, and reproductive biology,
Copied contents to your clipboard!