Submicroscopic xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)

In a 3-year-old boy with short stature, developmental delay, and dry skin, steroid sulphatase deficiency and a submicroscopic terminal deletion of Xp were found, Except for the short stature, no major clinical signs of X-link ed recessive chondrodysplasia punctata could be observed. His mother had lo wered steroid sulphatase activity compatible with carriership for X-linked ichthyosis and a submicroscopic translocation (X;14) (p22.31;p11.1), This f inding combined with a normal amplification of exons 1, 5, and 10 of the ST S gene from propositus' DNA suggested a breakpoint upstream of the STS gene . The submicroscopic maternal translocation had important implications for genetic counseling. This case report illustrates that contiguous gene syndr ome related to the Xpter region may have an atypical clinical presentation and the usefulness of combined clinical, biochemical, molecular, and fluore scence in situ hybridization analysis. (C) 1999 Wiley-Liss, Inc.