Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: A new autosomal recessive syndrome?

Ahmad S. Teebi, Steven Miller, Harry Ostrer, Patrice Eydoux, Céline Colomb-Brockmann, K. Oudjhane, G. Watters

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY female showed normal female external genitalia, normal uterus and tubes, and streak gonads. SRY gene sequencing was normal. We conclude that the present family probably represents a new autosomal recessive trait of pleiotropic effects including XY sex reversal and adds further evidence for the heterogeneity of spastic paraplegia syndromes as well as sex reversal syndromes.

Original languageEnglish (US)
Pages (from-to)759-762
Number of pages4
JournalJournal of medical genetics
Volume35
Issue number9
DOIs
StatePublished - 1998
Externally publishedYes

Keywords

  • Microcephaly
  • Optic atrophy
  • Sex reversal
  • Spastic paraplegia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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