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Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report

Turner syndrome (TS) is a chromosomal condition affecting 1 in 2000 females characterized by partial or complete loss of one of the X chromosomes. We describe an 11-year-old female who was recently diagnosed with TS. Karyotype revealed a deletion of the distal portion of chromosome X. Chromosome sin...

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Pubblicato in:Oxf Med Case Reports
Autori principali: D’Ambrosio, Fabiola, Chan, Jacqueline T, Aslam, Hunain, Aguirre Castaneda, Roxana, De Simone, Lenika, Shad, Zohra
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6570789/
https://ncbi.nlm.nih.gov/pubmed/31214355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/omcr/omz028
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