A child with partial monosomy 6q secondary to a maternal direct insertional event.
We report a child, now aged two years, who is monosomic for the region 6q23.1----q24.2. Her mother, older sister, and twin sister have a balanced chromosome complement with this region of 6q being inserted into 11q.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D004200:Diseases in Twins; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D014178:Translocation, Genetic; D014429:Twins, Dizygotic