Severe micrognathia in the first trimester in complete trisomy 9 – a case report and literature review
نویسندگان
چکیده
Trisomy 9 is a rare chromosomal abnormality with a very poor prognosis depending mostly on the amount and exact location of the duplicated genetic material. Most of the fetuses with complete trisomy 9 are spontaneously aborted in the early first trimester and therefore it is uncommonly seen at the time of 11-14 weeks’ scan. The diagnosis is usually made after fetal karyotyping performed for routine indications. We present a case of complete trisomy 9 diagnosed after chorionic villus sampling performed because of the detection of severe micrognathia at 13 weeks gestation.
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