Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).
A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans