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The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome

1 Oct 2023

Abstract excerpt

Abstract Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. This technique does not rule out tissue mosaicism or low-grade mosaicism in the blood. Because of the associated risk of gonadoblastoma, mosaicism is especially important in case this involves a Y chromosome. Aims: This study was set to determine the...

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PMID: 38322635
DOI: 10.4103/jhrs.jhrs_128_23

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