MILD PHENOTYPIC MANIFESTATIONS OF TERMINAL DELETION OF THE LONG ARM OF CHROMOSOME-4 - CLINICAL DESCRIPTION OF A NEW PATIENT

We present clinical and developmental data on a patient with a de novo terminal deletion of the long arm of chromosome 4. Cytogenetic studie s after G-banding revealed the karyotype 46,XY,del(4)(q34). The 4-year -old male showed mild facial dysmorphism. moderate mental retardation with speech retardation. and marked deficits in gross motor skills. Ou r patient is the second with this deletion described in the literature , In both patients the phenotype was characterized by mild to moderate mental retardation, abnormalities of the pinnae, and nonspecific Faci al dysmorphism. The mild phenotype might explain why only two patients with this deletion have been described so far.