Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1.
In this paper we describe two new patients with distal 11q monosomy and precisely localize breakpoints using high resolution banding techniques. The findings in these two patients further contribute to the precise localization of the crucial band for 11q monosomy syndrome as being at 11q24.1. A very distal 11q24.2 deletion in the second patient resulted in a completely different phenotype.
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002883:Chromosomes, Human, Pair 14; D003398:Craniosynostoses / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic