(精选)【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 valve, cystic hygroma, webbed posterior neck, congenital lymphydema, short stature, wide spaced nipples Klinefelter syndrome 47, XXY (equally derived from maternal or paternal errors) Associated with mitral valve prolapse, ToF, ASD, long arms and legs, 5th finger clinodactyly, hypogonadism, hypogenitalia, gynecomastia, behavioral issues Edward’s Syndrome/Trisomy 18 1/6000 births, 90% mortality in first year of life 95% with complete trisomy Females males 95-99% with cardiac (VSD, PDA, bicuspid aortic valve, pulm stenosis, CoA) Clenched hand, overlapping of 2nd finger over 3rd, rocker bottom feet, micrognathia, small mouth, cryptorchidism, hypertonia after neonatal period, short sternum You are called to the newborn nursery to evaluate a baby who is having difficulty with feedings. He seems ravenously hungry when given the nipple but becomes fretful and cries after sucking for more than a few seconds. Nurses have noticed that he becomes dusky when sleeping, but when he wakes and cries, his color improves. Echocardiography reveals a structurally normal heart. You suspect that the baby has choanal atresia.Of the following, the MOST likely associated condition in this child is A. Achondroplasia B. Crouzon syndrome C. Down syndrome D. fetal alcohol syndrome E. Prader-Willi syndrome Neonatology Genetics Topics UCSF Benioff Children’s Hospital Oakland C