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Keywords:

  • duplication 16p;
  • deletion 9p;
  • multiple congenital anomalies/mental retardation (MCA/ MR)syndrome

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 (16pl3.1[RIGHTWARDS ARROW]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.