A Case Report of Trisomy 9 Mosaicism (47,XX,+9/46,XX) / 대한산부인과학회잡지

ABSTRACT

A rare but typical case of trisomy 9 shows the characteristic phenotype of this syndrome microcephaly, low-set malformed ears, micrognathia, broad nose with bulbous tip, small and up-slanting palpebral fissures, deep-set eyes, congenital heart diseases, dislocation of joints, abnormal hands and feet, cryptorchidism, micropenis, mental retardation, and growth failure. In addition to karyotyping results, ultrasound findings are important in achieving diagnosis. We experienced a case of trisomy 9 mosaicism (47,XX,+9/46,XX) and so present it with a brief review of literature.