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  • Volume 17, Issue 6
  • Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations.

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Research Article
Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations.
  1. M Ferraro,
  2. A De Capoa,
  3. C Mostacci,
  4. F Pelliccia,
  5. P Zulli,
  6. M A Baldini,
  7. Q Di Nisio

    Abstract

    Chromosome analysis by Q, R, and C banding was performed in a case diagnosed clinically as gonadal dysgenesis and the karyotype was shown to be 46,X,Xt(qter leads to p221::p223 leads to qter). Localisation of the breakpoints in the fused X chromosomes and replication studies have led to a hypothesis on the origin of the translocation. A comparison of clinical and cytogenetical findings in this and other published cases has also been made in an attempt to detect some phenotype/karyotype correlations.

    https://doi.org/10.1136/jmg.17.6.457

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