title: Pericentric inversions of the X chromosome. A new observation and review of the published cases.
abstract: A pericentric inversion of the X chromosome-inv(X) (p11.3q22) is transmitted in 3 generations. Male and female carriers are normal. The proposita is tetraplegic, severely retarded and suffers from general seizures. Grand mal seizures are known in the mother and grandmother. Different proportions of inactive X chromosomes in the proposita and the normal sister are discussed. The published cases of inv(X) are reviewed.
mesh_terms: D002648:Child; D002871:Chromosome Banding; D007446:Chromosome Inversion; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011782:Quadriplegia / Q000235:genetics; D012640:Seizures / Q000235:genetics; D012729:Sex Chromosome Aberrations; D014960:X Chromosome