Multiple cytogenetic methods used to identify a new structural rearrangement of the human X chromosome

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Abstract
A woman with primary amenorrhea and pure gonadal dysgenesís had two cytogenetically abnormal cell lines. The karyotype was 45, X in 56–95 % of mitoses from lymphocytes and skin fibroblasts. In the remaining 5–44 % of the cells there was, in addition to a normal X, a structurally abnormal X chromosome interpretable as pter→q21::qll→pter or pter→q21::ql3→pter. The abnormal X chromosome was heterocyclic and had a normal centromere plus an extra C band in the long arm. Detailed interpretation of the structural rearrangements of this chromosome required the use of both Q-, G-, and C-banding and the BrdU-Hoechst 33258 technique.

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