title: Sperm segregation analysis of a complex chromosome rearrangement, 2;22;11, by whole chromosome painting.
abstract: Using the human sperm-hamster oocyte fusion technique and whole chromosome painting, we studied sperm chromosome segregation in a male heterozygous for a complex chromosome rearrangement, 46,XY,-2, +der(2)t(2;11)(q13; q23),-11,+der(11)t(11;22)(q23;q11.2),-22, +der(22)t(2;22)(q13; q11.2). A total of 208 sperm complements were analyzed. The frequency of sperm carrying a normal or a balanced complement was 13.5% (9.62% and 3.85%, respectively). The frequency of unbalanced sperm was 86.5% (64.9% from 3:3 segregation, including 30 different types; 20.7% from 4:2 segregation, including 21 different types; and 0.96% from 5:1 segregation, including 2 different types). The sex ratio, determined in 134 sperm complements, did not differ from the expected 1:1 ratio. The results obtained in this study are compatible with the formation, during the synaptic process, of a complex hexavalent figure involving chromosomes 2, 11, and 22. The behavior and segregation of this complex figure would explain the high frequency (86.5%) of unbalanced complements observed in this carrier.
authors.affiliation: Unitat de Biologia, Facultat de Medicina, Departament de Biologia Cel.lular i Fisiologia, Universitat Autònoma de Barcelona, (Spain). biolmed@cc.uab.es
authors.forename: P
authors.initials: P
authors.lastname: Cifuentes
authors.forename: J
authors.initials: J
authors.lastname: Navarro
authors.forename: L
authors.initials: L
authors.lastname: Míguez
authors.forename: J
authors.initials: J
authors.lastname: Egozcue
authors.forename: J
authors.initials: J
authors.lastname: Benet
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D006224:Cricetinae; D003433:Crosses, Genetic; D005192:Family Health; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008540:Meiosis / Q000235:genetics; D010375:Pedigree; D013084:Sperm-Ovum Interactions / Q000235:genetics*; D014178:Translocation, Genetic