Fragile sites and spontaneous abortions. 1991

D Toncheva
Department of Medical Genetics, Medical Academy, Sofia, Bulgaria.

In this report we present the cytogenetic findings of the expression of fragile sites in 10 couples with two or more spontaneous abortions. These findings were compared with the results in a control group of 15 subjects with two normal offsprings. Individuals of couples experiencing early fetal losses carry fragile sites with significant higher frequency, moreover this frequency is markedly influenced by the number of spontaneous abortions. Eight fragile sites were significantly more expressed in individuals with miscarriages than in the controls. These eight fragile sites correspond with cancer breakpoints or sites of oncogenes. Hypothesis on the role of oncogene mutations in spontaneous abortions is proposed, based on the results of the nonrandom distribution of fragile sites on human chromosomes.

UI MeSH Term Description Entries
D009857 Oncogenes Genes whose gain-of-function alterations lead to NEOPLASTIC CELL TRANSFORMATION. They include, for example, genes for activators or stimulators of CELL PROLIFERATION such as growth factors, growth factor receptors, protein kinases, signal transducers, nuclear phosphoproteins, and transcription factors. A prefix of "v-" before oncogene symbols indicates oncogenes captured and transmitted by RETROVIRUSES; the prefix "c-" before the gene symbol of an oncogene indicates it is the cellular homolog (PROTO-ONCOGENES) of a v-oncogene. Transforming Genes,Oncogene,Transforming Gene,Gene, Transforming,Genes, Transforming
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002873 Chromosome Fragility Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations. Chromosomal Fragility,Fragility, Chromosomal,Fragility, Chromosome
D003582 Cytogenetics A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE. Cytogenetic
D005260 Female Females
D005314 Embryonic and Fetal Development Morphological and physiological development of EMBRYOS or FETUSES. Embryo and Fetal Development,Prenatal Programming,Programming, Prenatal
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
D000022 Abortion, Spontaneous Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference. Abortion, Tubal,Early Pregnancy Loss,Miscarriage,Spontaneous Abortion,Abortions, Spontaneous,Abortions, Tubal,Early Pregnancy Losses,Loss, Early Pregnancy,Losses, Early Pregnancy,Miscarriages,Pregnancy Loss, Early,Pregnancy Losses, Early,Spontaneous Abortions,Tubal Abortion,Tubal Abortions

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