A Patient with Ring 9 Chromosome 46, XY, r(9)(p24.1q34.3)

We report the case of a male infant with a 46, XY, r(9)(p24.1q34.3) karyotype. He had developmental retardation and many dysmorphic features, such as trigonocephaly, ante‐verted nostrils, micrognathia, abnormal auricles, short neck, cardiopathy and increased frequency of digital whorls, in common with those of monosomy 9p syndrome.