RING CHROMOSOME-13 WITH LOSS OF THE REGION D13S317-D13S285 - PHENOTYPIC OVERLAP WITH XK SYNDROME

We report on a patient with a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome including facial abnormalities, agenesi s of the corpus callosum, heart defect, 1st ray anomalies of the upper limb, and ambiguous genitalia, whose phenotype overlaps a previous de scription of XK syndrome, The patient has a ring chromosome (13) with deletion 13q32-qter. Molecular analysis demonstrated loss of the regio n from D13S317 to D13S285 and a paternal origin of the anomaly. (C) 19 97 Wiley-Liss, Inc.