Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
نویسندگان
چکیده
Case report involving a normal female by NIPT with male external genitalia on routine fetal morphology assessment. QF-PCR, CGH microarray, and FISH revealed an unbalanced translocation, involving the short arms of the X and Y chromosomes. This case demonstrates the possible limitations of correctly identifying sex chromosome abnormalities via NIPT.
منابع مشابه
Comparison of noninvasive prenatal testing of cell‐free DNA in maternal blood and amniocentesis for evaluation of aneuploidy
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عنوان ژورنال:
دوره 3 شماره
صفحات -
تاریخ انتشار 2015