title: Abnormality of chromosome 16 and its phenotypic expression.
abstract: An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46,XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid-facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic appearance and the phenotype of the patient, this may represent a partial 16 trisomy. Unlike most abnormalities of chromosome 16, this syndrome was compatible with life.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D014314:Trisomy