18q- syndrome in mother and daughter.
The 18q- syndrome is described in a mother and her daughter. In both of them an identical, apparently balanced 18q-/14p+ translocation was found (Karyotype: 46,XX,t(14;18)(p11;q21), suggesting that chromosomal material was lost in the process of translocation. The segment deleted and responsible for the 18q- phenotype must be located in or near band 18q21, in which the break is assumed to have occurred.
D002648:Child; D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008875:Middle Aged; D013577:Syndrome; D014178:Translocation, Genetic