Autosomal reciprocal translocations and 13/14 translocations: a population study. 1976

J Nielsen, and K Rasmussen

Fifteen children with autosomal reciprocal translocations were found in an incidence study of chromosome aberrations among 11,148 consecutively liveborn children in a Danish Maternity Hospital (1.34 per 1,000). The segregation rate of the balanced forms was 60% and that of unbalanced forms 4%; the frequency of familial cases was 73%. None of the probands or their relatives who carried the balanced translocation had any physical or mental abnormalities which could be associated with the chromosome aberration. We found two children with unbalanced translocations among the 45 relatives examined, but more studies of unselected population groups are needed before any segregation rates for unbalanced derivatives of autosomal reciprocal translocations can be estimated. We found a significantly higher frequency of abortions, stillbirths and perinatal deaths in the progeny of carriers with the translocation, compared with non-carriers in the same families. The unbalanced forms of autosomal reciprocal translocations in most cases are probably not compatible with the development of a foetus to a liveborn, healthy child. Fifteen children with 13/14 translocation were found among 11,148 consecutively liveborn children. Incidence, segregation rates and type of translocation are discussed. Fertility and risk for carriers of D/D translocations of producing children with autosomal trisomy are discussed.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007226 Infant Mortality Postnatal deaths from BIRTH to 365 days after birth in a given population. Postneonatal mortality represents deaths between 28 days and 365 days after birth (as defined by National Center for Health Statistics). Neonatal mortality represents deaths from birth to 27 days after birth. Neonatal Mortality,Mortality, Infant,Postneonatal Mortality,Infant Mortalities,Mortalities, Infant,Mortalities, Neonatal,Mortalities, Postneonatal,Mortality, Neonatal,Mortality, Postneonatal,Neonatal Mortalities,Postneonatal Mortalities
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
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
D002901 Chromosomes, Human, 13-15 The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15. Chromosomes D,Group D Chromosomes,Chromosome, Group D,Chromosomes, Group D,Group D Chromosome
D005260 Female Females
D005313 Fetal Death Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH. Fetal Mummification,Fetal Demise,Death, Fetal,Deaths, Fetal,Demise, Fetal,Fetal Deaths,Mummification, Fetal

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