Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly

A boy of 16 months of age with psychomotor retardation, short stature, microbrachycephaly, triangular face, microphthalmia, palpebral fissures slanted downward, cardiopathy, simian crease on left hand, agenesis of fourth finger on the right hand and of the nail in the second finger on the right one was studied. The karyotype showed a complement of 46, XY, del(6) (q16.2q22.2). The clinical and cytogenetic analysis with other previous cases described in the literature led us to identificate other patients with ectrodactyly. Therefore as other authors we suggest the possible localization of gene(s) that could have involvement with the development of extremities in this segment.