INTERSTITIAL DELETION OF LONG ARM OF CHROMOSOME NO-5 WITH GROWTH-HORMONE DEFICIENCY - AN EMERGING SYNDROME

5p- is a well-defined syndrome, but phenotypic correlations of 5q are poorly described in the literature. We present a case of a female chil d with interstitial deletion in the 5q13.1q15 region. Comparison of th e clinical features of this patient with others reported in the litera ture suggests an emerging clinical syndrome defined by short stature, failure to thrive, mental retardation, slanting palpebral fissures, ma lformed ears, short neck and depressed nasal bridge. Based on our endo crine testing, we hypothesize that the short stature could be, in part , due to growth hormone deficiency. The recent assignment of growth ho rmone receptor gene to the short arm of chromosome 5 and the presence of several genes for growth factors and growth factor receptors on 5q raise interesting possibilities for the explanation of short stature i n such cases.