Isodicentric X chromosome in a woman with characteristics of gonadal dysgenesis

This paper presents a female patient with primary amenorrhea in whose karyotype an aberrant X chromosome was present. The chromosome resulted from the fusion of two X chromosomes at distal parts of the long arm and from the loss of the segment q24→qter. The clinical and cytogenetic picture is compared with that of patients with the same aberration reported by other authors.