Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5.
We present a family, identified through a girl with "Cri-du-chat syndrome", in which two different types of recombinants exist [del(5)(qter leads to p14:) and dup(5)(p13)]. They are due to a 5p paracentric inversion of maternal origin [inv(5)(pter p13)]. We discuss the relationship between the breakpoints and segregation of the inversion carrier, as well as the origin and the identification of the recombinants.
D000328:Adult; D007446:Chromosome Inversion; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic