CH 30 Chromosomal Abnormalities

Normal diploid cells have -46 chromosomes -23 -21 -69

46

With what procedure is placental tissue obtained? a. Amniocentesis b. Cordocentesis c. CVS d. Trophoblastic resection technique

CVS

Which of the following is a maternal serum test that is used to determine the gender as well as detecting some chromosomal abnormalities -cell free dna -cordocentesis -amniocentesis -CVS

cell free dna

The bending of the fifth digit toward the fourth -syndactyly -clinodactyly -polydactyly -stabodactyly

clinodactyly

The maternal serum screening of a fetus with trisomy 18 will reveal -decreased hcg, elevated afp, normal estriol -increased hcg, afp and estriol -increased afp and hcg with decreased estriol -decreased hcg afp estriol

decreased hcg afp estriol

pelvocaliectasis refers to ? a) dilation of the renal pelvis and calices b) enlargement of the fetal pelvis c) ectopic location of the kidney within the pelvis d) dilation of the ureter within the pelvis

dilation of the renal pelvis and calices

A 38 year old pregnant woman presents with low AFP and estriol and elevated hcg. -edwards -patau -triploidy -down syndrome

down syndrome

Echogenic small bowel is most often associated with: a. Down syndrome b. Edwards syndrome c. Patau syndrome d. Turner syndrome

down syndrome

Which of the following lab findings would not be consistent with trisomy 21 -high afp -low estriol -high hcg -low papp-a

high afp

Which of the following is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males -down -edwards -klinefelter -turner

klinefelter

A stuctural abnormality that results from an abnormal development describes -sundrome -chromosomal deviation -malformation -congenital misrepresentation

malformation

Webbed fingers or toes are termed -clinodactyly -syndactyly -polydactyly -werner syndrome

syndactyly

A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has : A. Trisomy 21 B. Trisomy 18 C. Triploidy D. Turner syndrome

triploidy

Theca lutein cysts would most likely be linked with a molar pregnancy and -down syndrome -IUGR -triploidy -monosomy x

triploidy

Another name for patau is -trisomy 21 -trisomy 16 -trisomy 18 =trisomy 13

trisomy 13

Cyclopia would most likely be associated with -trisomy 8 -trisomy 21 -trisomy 18 -trisomy 13

trisomy 13

you identify a fetus with fusion of the thalami and a monoventricle. which chromosomal abnormality would be most likely? -trisomy 8 -trisomy 21 -trisomy 18 -trisomy 13

trisomy 13

Bilateral choroid plexus cysts, micrognathia, and rockerbottom feet are sonographic findings of a 27-week fetus with an omphalocele. These findings are most consistent with: -trisomy 21 -trisomy 13 =trisomy 18 -triploidy

trisomy 18

A 22 week fetus with clinodactyly, echogenic intracardiac focus, and hyperechoic bowel is -trisomy 21 -trisomy 13 -monosomy x -trisomy 18

trisomy 21

What is macroglossia most often associated with -trisomy 21 -trisomy 18 -triploidy -turner syndrome

trisomy 21

The term omphalo refers to -neck -cord -umbilical region -neck

umbilical region

With which of the following syndromes is bradycephaly associated most often -edwards -patau -down syndrome -turner syndrome

down syndrome

A molar pregnancy, omphalocele and small low set ears are found with -trisomy 21 -trisomy 18 -trisomy 13 -triploidy

triploidy

Advanced maternal age is considered to be -25+ -30+ -35+ -32+

35+

Which of the following is a sex chromosome anomaly -edwards syndrome -trisomy 13 -downsyndrome -45,X

45 x

the earliest invasive fetal karyotyping technique that can be performed is ? a) amniocentesis b) cordocentesis c) CVS d) PUBS

CVS

Which protein is not produced by the developing placenta -afp -hcg -estriol -papp-a

afp

The triple screen typically includes -afp estriol and hcg -afp afi and hcg -afp estriol and papp-a -papp-a inhibin a and hcg

afp estriol and hcg

A cell that has an abnormal number of whole chromosomes is referred to as -triploid -mosaic -haploid -aneuploid

aneuploid

Round head shape is referred to as -dolichocephaly -brachycephaly -cebocephaly -craniosynostosis

brachycephaly

What are the fingerlike projections of gestational tissue that attach to the decisualised endometrium -decisua capsularis -decidua vera -chorionic villi -placental substance

chorionic villi

What is another name for the most common chromosomal abnormality -edwards -triploidy -down -turner

down

Widened pelvic angles and duodenal atresia are most consistent with -triploidy -patau -down -edwards

down

A strawberry-shaped skull is associated with =edwards syndrome -turner syndrome -down syndrome -patau syndrome

edwards

Which of the following is not consistent with the diagnosis of nonimmune hydrops -hypoplastic mandible -pleural effusion -ascites -subcutaneous edema

hypoplastic mandible

The tern for small eyes -microphthalmia -micrognathia -microcephaly -microglossia

microphthalmia

A situation in which some cells have an abnormal number of chromosomes whereas others do not -triploidy -monosomy -mosaic -haploid

mosaic

Fusion of the orbits and holoprosencephaly are associated with: -edwards -turner -down -patau

patau

A large space between the first and second toes is termed -polydactyly -clubfoot -ulnaration -sandal gap

sandal gap

What is defined as a group of clinically observable findings that exist together and allow for classification -syndrome -chromosomal deviation -malformation -congenital association

syndrome

A cell having three copies of an individual chromosome is referred to as -syndrome -trisomy -triploidy -tetralogy

trisomy

Cleft lip, hypotelorism, and microphthalmia are all sonographic features of: a. Trisomy 21 b. Trisomy 18 c. Trisomy 13 d. Turner syndrome

trisomy 13

Absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for ? a) trisomy 21 b) trisomy 13 c) triploidy d) trisomy 18

trisomy 21

Monosomy X refers to -edwards syndrome -patau -down -turner

turner

Nonimmune hydrops and ovarian dysgenesis are found in fetuses with -trisomy 21 -trisomy 18 -trisomy13 -turner syndrome

turner syndrome

Webbing of the neck and short stature is found in infertile female patients with hx of -trisomy 21 -triploidy -trisomy 13 -turner syndrome

turner syndrome