chapter 30 chromosomal abnormalities questions

rounded head shape is referred to as

brachycephaly

the bending of the fifth digit toward the fourth digit is called?

clinodactyly

Widened pelvic angles and duododnal atresia are most consistent with the sonographic markers for: A. Triploidy B. Patau syndrome C. Down syndrome D.Edwards syndrome

down syndrome

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

hypoplastic mandible

a large space between the first and second toes is termed?

sandal gap

Webbed fingers or toes are termed : A. Clinodactyly B. Syndactyly C. Polydactyly D. Whren syndrome

syndactyly

theca lutein cysts would most likely be linked with a molar pregnancy and

triploidy

with what procedure is placental tissue obtained?

CVS

with which of the following syndromes is brachycephaly associated most often: -edwards -Patau -down's -turner

downs syndrome

another name for Patau syndrome is

trisomy 13

cyclopia would most likely be associated with?

trisomy 13

which of the following is a sex chromosome anomaly? -edwards -trisomy 13 -downs -45,X

45,X

normal diploid cells have?

46 chromosomes

advanced maternal age is considered to be

>35 years of age

the earliest invasive fetal karyotyping technique that can be performed is:

CVS

which protein is not produced by the developing placenta?

alpha-fetoprotein

the triple screen typically includes:

alpha-fetoprotein, estriol, and hCG

what are the fingerlike projections of gestational tissue that attach to the decidualized endometrium?

chorionic villi

the maternal serum screening of a mother with a fetus with trisomy 18 will reveal?

decreased hCG, alpha-fetoprotein, and estriol

pelvocaliectasis refers to

dilation of the renal pelvis and calices

a 38 year old pregnant woman presents to the sonography department for an obstetrical sonogram with abnormal maternal serum screening. Her alpha-fetoprotein and estriol are low, whereas her hCG is elevated. These laboratory findings are most consistent with:

down syndrome

echogenic small bowel is most often associated with

down syndrome

what is another name for the most common chromosomal abnormality?

down syndrome

a strawberry-shaped skull is associated with

edwards syndrome

which of the following laboratory 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 chromosomes anomaly associated with hypogonadism and subnormal intelligence in males? -down syndrome -edwards syndrome -klinefelter syndrome -turner syndrome

klinefelter

a structural abnormality that results from an abnormal development describes

malformation

the term for small eyes is

micropthalamia

Fusion of the orbits and holoprosencephaly are associated with:

patau syndrome

a fetus with a karyotype revealing it has 69 chromosomes ans sonographic findings of webbed fingers and intrauterine growth restriction most likely has?

triploidy

a molar pregnancy, omphalocele, and small, low-set ears are found most often with?

triploidy

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

trisomy 13

sonographically, you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely?

trisomy 13

bilateral choriod plexus cysts, micrognathia, and rockerbottom feet are sonographic findings of a 27 week fetus with an omphalocele. these findings are most consistent with

trisomy 18

Absent nasal bones in an increased nuchial measurement is most consistent with the sonographic markers for: A. Trisomy 21 B. Trisomy 13 C. Triploidy D. Trisomy 18

trisomy 21

a 22 week fetus with clinodactyly, an echogenic intracardiac focus, and hyperechoic bowel is noted during a screening obstetrical sonogram. these findings are most consistent with

trisomy 21

what is macroglossia most often associated with?

trisomy 21

Webbing of the neck and short stature is found in infertile female patients with a history of: A. trisomy 21 B. Triploidy c. trisomy 13 d. Turner syndrome

turner syndrome

monosomy X refers to `

turner syndrome

nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by?

turner syndrome