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[Genetic analysis of an individual with a fragile site at 16q22]
Minjie Shao1, Yun Wang, Chan Tian
1Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China. shaominjiebysy@163.com.
Objective:
To analyze a patient with infertility and a fragile site found at 16q22 by using cytogenetic methods.
Methods:
Peripheral blood sample was taken from the patient and subjected to chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis.
Results:
The patient was found to be a mosaicism for a fragile site at 16q22, which has a variable morphology and cannot be induced by folic acid treatment. No abnormality was found by SNP-array analysis.
Conclusion:
A rare fragile site, which can be induced without folic acid treatment, has been identified at 16q22. The strategy of assisted reproduction for such individuals is yet to be explored.
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