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. 1980 Dec;17(6):457–463. doi: 10.1136/jmg.17.6.457

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.

M Ferraro, A De Capoa, C Mostacci, F Pelliccia, P Zulli, M A Baldini, Q Di Nisio
PMCID: PMC1885922  PMID: 7205428

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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