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.
Original language | English (US) |
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Pages (from-to) | 37-41 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics |
Volume | 76 |
Issue number | 1 |
DOIs | |
State | Published - Feb 26 1998 |
Keywords
- ASD
- Colpocephaly
- Corpus callosum agenesis
- Deletion Xp22.3
- Derivative X
- Hypospadias
- Microcornea
- Sclerocornea
- Smooth muscle hamartoma
ASJC Scopus subject areas
- Genetics(clinical)