title: Trisomy 16p in a liveborn infant and review of trisomy 16p.
abstract: We report on an infant boy with duplication of part of 16p and partial deficiency of 9p: 46,XY, -9, + der(9)t(9;16)(p24;p13.1)mat. The child has the typical phenotype of dup(16p) even though the extra piece of 16p is small (16p13.1----pter). Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, hypertelorism, cleft soft palate, a thin vermilion border of the upper lip, and left renal dysgenesis. We review 16p duplications.
authors.affiliation: Children's Mercy Hospital, Kansas City, Missouri.
authors.forename: T A
authors.initials: TA
authors.lastname: O'Connor
authors.forename: R R
authors.initials: RR
authors.lastname: Higgins
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D008297:Male; D014314:Trisomy