Second 46,XX male with MLS syndrome

Robert F. Stratton, Christi A. Walter, Brent R. Paulgar, Mary E. Price, Charleen M. Moore

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

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 languageEnglish (US)
Pages (from-to)37-41
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume76
Issue number1
DOIs
StatePublished - 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
  • Genetics(clinical)

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