Partial monosomy 12p13.1----13.3.
We describe a 27 month old female child with partial monosomy for the short arm of chromosome 12: 46,XX,del(12)(p13.1----p13.3). She differs from the eight cases described by others, in that she is less severely affected. Her main clinical features are developmental delay, protruding tongue, strabismus, slightly unusual facies, slight micrognathia, and speech delay.
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D002658:Developmental Disabilities / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D006801:Humans; D014061:Tongue Habits