Genetics Quiz

neural tube defects

An abnormal nuchal transluceny increases fetal risk for all of the following EXCEPT: cardiac abnormality down syndrome cystic hygroma neural tube defects

enlarged cisterna magna

Which is NOT a sonographic marker for Down syndrome? shortened long bones absent nasal bone increased nuchal fold enlarged cisterna magna

majority spontaneously abort, complete extra set of chromosomes

Which of the following 2 items are true regarding triploidy? (select 2) macrosomia majority spontaneously abort polyhydramnios is commonly present complete extra set of chromosomes polydactyly

encephaloceles

Which of the following is FALSE about VACTERL? cardiac abnormalities limb anomalies vertebral body abnormalities encephaloceles

hydranencephaly

Which of the following is NOT associated with Patau syndrome? facial abnormalities hydranencephaly holoprosencephaly cardiac abnormalities

holoprosencephaly

Which of the following is NOT associated with Trisomy 18? IUGR holoprosencephaly clenched hands cystic hygroma

omphalocele

Which of the following is NOT associated with Turner syndrome? omphalocele female cystic hygroma renal anomalies

Trisomy 13

Which of the following is another name for Patau syndrome? Trisomy 18 Trisomy 13 Trisomy 21 triploidy

pregnancy plasma protein

Which of the following is included in the first trimester serum screening? estriol bilirubin alpha fetal protein pregnancy plasma protein

karyotype

Which of the following terms is used for pictures of chormosomes and how they look structurally? karyotype autosomal recessive autosomal dominant mosaicism