Partial trisomy 20p derived from a t(18;20) translocation. 1976

K M Taylor, and H L Wolfinger, and M G Brown, and D L Chadwick, and U Francke

Two sibs show a strikingly concordant syndrome of congenital anomalies and G-banding reveals that each has partial trisomy 20p resulting from a t(18;20) translocation. They resemble other cases of partial trisomy 20p in some respects but also differ in some ways. Their normal sib, mother, and half-aunt are balanced heterozygotes for the t(18;20) translocation. The segregation of the balanced translocation in this family is associated with an extremely poor reproductive record. The segregation pattern closely parallels that of a t(13;20) translocation in a family described by Carrel et al. (1971) and Francke (1972). The similarity of segregation patterns is predictable on the basis of probable pachytene configurations, but the dissimilarity of phenotypes between families is not readily explained.

UI MeSH Term Description Entries
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
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
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
D002902 Chromosomes, Human, 16-18 The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18. Chromosomes E,Group E Chromosomes,Chromosome, Group E,Chromosomes, Group E,E Chromosomes, Group,Group E Chromosome
D002903 Chromosomes, Human, 19-20 The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20. Chromosomes F,Group F Chromosomes,Chromosome, Group F,Chromosomes, Group F,Group F Chromosome
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
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

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