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

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 fe...

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Bibliographic Details
Published in:Journal of medical genetics 1998-09, Vol.35 (9), p.759-762
Main Authors: Teebi, A S, Miller, S, Ostrer, H, Eydoux, P, Colomb-Brockmann, C, Oudjhane, K, Watters, G
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Child, Preschool
Complex syndromes
Consanguinity
Disorders of Sex Development
DNA-Binding Proteins - genetics
Female
Genes, Recessive
Genetic Heterogeneity
Humans
Intelligence
Iran
Karyotyping
Male
Medical genetics
Medical sciences
Microcephaly
Nuclear Family
Nuclear Proteins
Optic Atrophy
Sex Chromosome Aberrations - genetics
Sex-Determining Region Y Protein
Spastic Paraplegia, Hereditary
Syndrome
Transcription Factors
Twins
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.35.9.759