De novo paracentric inversion in an X chromosome.
A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome.
D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002871:Chromosome Banding; D007446:Chromosome Inversion; D005260:Female; D006801:Humans; D007621:Karyotyping; D007859:Learning Disabilities / Q000235:genetics*; D014960:X Chromosome