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Partial trisomy 13 [46,XY,dup(13)(q14-31)]: a case report
1Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Kaohsiung, Taiwan, R.O.C.
Abstract:
We report a fetus with partial trisomy 13 [46,XY,dup(13)(q14-31)] which was found during an amniocentesis performed due to the age of the mother. This duplication segment (13q 14-31) has not been reported in literature. The clinical features of our patient included cleft lip/palate, low set ears, depressed nasal bridge, hypertelorism, and epicanthal fold. After termination of the pregnancy, the fetus was sent for an autopsy. The autopsy report was compatible with the gross findings and no other abnormalities, including central nervous, cardiac, and renal system, were found. The level of maternal alpha-fetoprotein, 2.67 MoM, was opposite with the common phenomenon in complete trisomy 13.