2ND 46,XX MALE WITH MLS SYNDROME

We report on a second 46,XX male with microphthalmia with linear skin defects (MLS) syndrome. In addition to microphthalmia and linear skin streaks, he had a secundum ASD, hypospadias with chordee, anal fistula , and agenesis of corpus callosum with colpocephaly. Biopsy of a linea r streak showed smooth muscle hamartomata rather than the presumed der mal aplasia. Detailed ophthalmologic examination did not show retinal lacunae typical of Aicardi syndrome. DNA studies with distal Xp specif ic probes indicated a deletion in one X chromosome and fluorescence in situ hybridization (FISH) studies with X- and Y-specific probes demon strated the presence of a derivative X chromosome from an X;Y transloc ation. (C) 1998 Wiley-Liss, Inc.