(精编)【医学英文课件】 Neonatology Genetics Topics教学课件.pptVIP

C. 47,XX+13 Trisomy 13/Patau (aplasia cutis), cleft lip/palate, polydactyl are in 50% of infants with Trisomy 13 Also seen are holoprosencephaly, microcephaly, cardiac defects Midline defects, VSD 50% of infants die by 2 weeks, 90% by 1yr 80% with complete trisomy and remainder with translocation 95% of trisomy 13 conceptions lead to spontaneous abortion Turner Syndrome 50% are 45, X 30-40% mosaics 10-20% from deletions of X chromosome Majority of fetuss undergo spontaneous abortion Associated with coarctation of the aotrta, bicuspid aortic