Interstitial deletion 2q31 leads to q33.
We present an 8-month-old female with severe retardation of growth and development, multiple congenital anomalies, and an interstitial deletion del(2)(q31 leads to q33) including results of cytogenetic and gene marker studies. The manifestations of this infant are compared with those of four other known patients with a partial del(2q).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000235:genetics