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 leads to qter. The clinical and cytogenetic picture is compared with that of patients with the same aberration reported by other authors.