Interstitial deletion for a region in the long arm of chromosome 16.
An infant with an interstitial deletion of chromosome 16 is reported. He showed severe psychomotor retardation and multiple congenital anomalies (craniofacial dysmorphism, cleft palate, endocardial cushion defect, preaxial polydactyly of one hand, low total ridge count). Unbanded chromosome studies following amniocentesis failed to identify the deletion. This case is very similar to other cases in the literature which were reported first by Fryns et al. (1977).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D002972:Cleft Palate / Q000235:genetics; D004694:Endocardial Cushion Defects / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities