Partial trisomy 14q—and pseudoxanthoma elasticum

Abstract

An adolescent mentally retarded child with short stature is described. Clinical and histological features of pseudoxanthoma elasticum (PXE) were present in the skin. Karyotype examination revealed an extra autosome roughly comparable in size to a G group chromosome. Detailed fluorescent and Giemsa banding analysis identified the extra chromosome as a 14q‐. It is probable that many other reported cases of non mongoloid trisomy involving G‐sized autosomes are similar to this case and are associated with partial trisomy of D group chromosomes. Viability and severity of abnormalities will depend on how much euchromatin has been deleted.