We report a 40‐year‐old female with mild mental retardation and behavior problems and her 6‐year‐old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterized further with band‐specific probes, resulting in a 46,XX,dir dup(16)(pter → p11.2::p12.1 → qter) karyotype. The clinical and cytogenetical findings are compared to other patients with partial trisomy 16p reported in the literature. © 2002 Wiley‐Liss, Inc.

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