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 fissur es slanted downnward, cardiopathy, simian crease on left hand, agenesi s of fourth finger on the right hand and of the nail in the second fin ger on the right one was studied. The karyotype showed a complement of 46, XY, del(6) (q16.2q22.2). The clinical and cytogenetic analysis wi th other previous cases described in the literature led us to identifi cate other patients with ectrodactyly. Therefore as other authors we s uggest the possible localization of gene(s) that could have involvemen t with the development of extremities in this segment.