Chromosomal Abnormalities

Question 1

Trisomy, phenotype, and associated anomalies of: Down Syndrome

Answer 1

21

short stature, flat facies, mental retardation

cardiac defects, duodenal atresia/stenosis, short limbs

Dx: 1T screen with Nuchal Translucency with PAPP-A and B-hCG; Quad Screen 15-20 wks

Question 2

Trisomy, phenotype, and associated anomalies of: Edward Syndrome

Answer 2

18

clenched fists, overlapping digits, rocker bottom feet

VSD, Tetralogy of Fallot, omphalocele, congenital diaphragmatic hernia, NTDs, choroid plexus cysts

Dx: 1T, 2T screening US

Question 3

Trisomy, phenotype, and associated anomalies of: Patau Syndrome

Answer 3

13

holoprosencephaly, cleft lip/palate, cystic hygroma, omphalocele

hypoplastic left heart, club foot/hand, polydactyly, overlapping fingers

Dx; 1T screening US

Question 4

Trisomy, phenotype, and associated anomalies of: Turner Syndrome

Answer 4

45X

short stature, primary amenorrhea, web neck, shield-like chest, wide set nipples

coarctation of aorta, cystic hygroma

Question 5

Trisomy, phenotype, and associated anomalies of: Klinefelter Syndrome

Answer 5

47 XXY

infertility, gynecomastia, MR, elevated gonadotropin levels

Dx: CVS or amniocentesis