Isodicentric X chromosome in a woman with characteristics of gonadal dysgenesis

1 January 1979

journal article
case report
Published by Springer Nature in Human Genetics

Vol. 49 (2) , 237-241
https://doi.org/10.1007/bf00277649

Abstract

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.

Keywords

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