Duplication deficiency as the result of meiotic segregation of a maternal InV (10).
In a family a large pericentric inversion involving nearly 70% of the chromosome 10 has been segregating during three generations, giving several carriers and an affected male with the karyotype 46,XY,der(10)(10pter Leads to 10q25::10p12 Leads to 10pter)mat. The patient is trisomic for 10p except for a small segment near the centromere, and monosomic for the distal 10q26. A simple diagrammatic representation explains the behavior of the inv(10) in meiosis. The study of meiotic segregation in the present case, and the reviews of previously reported duplication-deficiencies, agree with established postulates and add some principles to the understanding of duplication deficiencies resulting from the meiotic behavior of inverted chromosomes.
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D008540:Meiosis; D010375:Pedigree; D014314:Trisomy