title: Second 46,XX male with MLS syndrome.
abstract: 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 linear streak showed smooth muscle hamartomata rather than the presumed dermal aplasia. Detailed ophthalmologic examination did not show retinal lacunae typical of Aicardi syndrome. DNA studies with distal Xp specific probes indicated a deletion in one X chromosome and fluorescence in situ hybridization (FISH) studies with X- and Y-specific probes demonstrated the presence of a derivative X chromosome from an X;Y translocation.
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284-7802, USA.
authors.forename: R F
authors.initials: RF
authors.lastname: Stratton
authors.forename: C A
authors.initials: CA
authors.lastname: Walter
authors.forename: B R
authors.initials: BR
authors.lastname: Paulgar
authors.forename: M E
authors.initials: ME
authors.lastname: Price
authors.forename: C M
authors.initials: CM
authors.lastname: Moore
mesh_terms: D061085:Agenesis of Corpus Callosum; D003315:Cornea / Q000002:abnormalities; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000150:complications / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008850:Microphthalmos / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012003:Rectal Fistula / Q000150:complications / Q000235:genetics; D012868:Skin Abnormalities / Q000150:complications / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics