Genetic testing of patients with disorders of sex development
Автор: Sleptsov А.А., Nazarenko М.S., Nazarenko L.P., Sukhomyasova А.L., Nogovitsina А.N., Maximova N.R., Gurinova Е.Е.
Журнал: Сибирский журнал клинической и экспериментальной медицины @cardiotomsk
Рубрика: Клинические исследования
Статья в выпуске: 4-2 т.26, 2011 года.
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Disorders of sex development comprise a heterogeneous group of disorders of sex determination and differentiation. In spite of many patients affected, no definitive cause for the disorder can be found. In the current study Gbanded karyotyping and mutation analysis of the SRY gene was performed in six patients with poor sexual development. The mutation that results in a premature stop codon (p.Trp70X) was detected in patient with primary amenorrhea. Genetic test data will help to develop the strategy of genetic counseling and management of these patients.
Y-хромосома, sry, xy disorders of sex development, y-chromosome
Короткий адрес: https://sciup.org/14919644
IDR: 14919644
