Duplication in the long arm of the X-chromosome associated with spastic paraparesis and premature menopause.
In this report we describe a 24-year-old mentally normal female with spastic paraparesis, premature menopause and with a duplication of Xq22.3-->q27.3. The relationship between the X-chromosomal anomaly and the gonadal and neurological symptoms is discussed.
Kleczkowska
A
A
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Van den Berghe
H
H
D000328:Adult; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007621:Karyotyping; D008594:Menopause, Premature / Q000235:genetics*; D009030:Mosaicism; D015493:Paraparesis, Tropical Spastic / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014960:X Chromosome