Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue.
Ann Pediatr Endocrinol Metab
; 26(4): 272-277, 2021 Dec.
Article
en En
| MEDLINE
| ID: mdl-34634867
PURPOSE: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction. METHODS: DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used. RESULTS: We found 14 patients (12.8%) with positive molecular markers for the Y chromosome. The study of tissues of different embryological origin showed the same degree of agreement, sensitivity, and specificity. CONCLUSION: Oral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost.
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01-internacional
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MEDLINE
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En
Revista:
Ann Pediatr Endocrinol Metab
Año:
2021
Tipo del documento:
Article
País de afiliación:
Brasil
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