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Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome

16 Jul 2020

Abstract excerpt

STUDY QUESTION: Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)? SUMMARY ANSWER: Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort. WHAT IS KNOWN ALREADY: Few studies have evaluated buccal cell FISH...

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PMID: 32810206
DOI: 10.1093/humrep/deaa197

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