Sperm chromosome complements in a man heterozygous for a reciprocal translocation t(2;3)(q24;p26). 1994

R H Martin
Department of Pediatrics, University of Calgary, Alberta, Canada.

Sperm chromosome complements were studied in a man heterozygous for a reciprocal translocation t(2;3)(q24;p26). This man was identified during a family study after his sister was investigated for amenorrhea. A total of 92 spermatozoa were karyotyped after in-vitro penetration of hamster eggs. The frequencies of alternate, adjacent 1, adjacent 2 and 3:1 segregations were 55.4, 36.1, 7.2 and 1.2% respectively. For alternate segregations, the number of normal spermatozoa (n = 25) was not significantly different from the number of spermatozoa carrying a balanced form of the translocation (n = 21), as theoretically expected. The proportion of spermatozoa with an unbalanced form of the translocation was 44.6%. There was no evidence for an interchromosomal effect since the frequencies of numerical and structural abnormalities (unrelated to the translocation) were within the normal range of control donors.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
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
D002889 Chromosomes, Human, Pair 2 A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. Chromosome 2
D002893 Chromosomes, Human, Pair 3 A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. Chromosome 3
D005260 Female Females
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000568 Amenorrhea Absence of menstruation. Postpartum Amenorrhea,Amenorrhea, Postpartum,Postpartum Amenorrheas

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