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Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.

An 18-year-old female with some stigmata of pure dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter leads to q27: :q21 leads to qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and...

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Autori principali: Varella-Garcia, M, Tajara, E H, Gagliardi, A R
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1981
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048711/
https://ncbi.nlm.nih.gov/pubmed/7241547
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