[Familial pericentric inversion of the X chromosome [inv(X)(p11q28)]].
A familial pericentric inversion of the X chromosome [46,X,inv(X)(p11q28)] and [46,inv(X)(p11q28), Y] is reported. The carriers of the inv(X) presented no clinical symptoms. Either the inverted or the normal X chromosome may be late replicating.
D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
Inversion péricentrique familiale du chromosome X [inv(X)(p11q28)].