Article
Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry.
Gene - 25 Feb 2014
Chen Chih-Ping, Chen Ming, Chen Chen-Yu, Chern Schu-Rern, Wu Peih-Shan, Chang Shun-Ping, Kuo Yu-Ling, Chen Wen-Lin, Pan Chen-Wen, Wang Wayseen
Abstract excerpt
We present prenatal diagnosis and molecular cytogenetic characterization of de novo pure trisomy 6p22.3 → p25.3 encompassing BMP6 in a fetus associated with microcephaly and craniosynostosis on prenatal ultrasound, abnormal maternal serum biochemistry of a low PAPP-A level in the first-trimester combined test, and a karyotype of 46,XX,der(22)t(6;22)(p22.3;p13)dn. The present case demonstrates the usefulness of...
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