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Exam 2 (DS & NF) Flashcards

1
Q

What chromosome and protein are effected in Wilson Disease?

A

Chromosome 13. Hepatic copper transport protein (ATP7B)

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2
Q

The trans-Golgi network is located within what cells?

A

Hepatocytes

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3
Q

What is the major copper carrying protein in the blood called?

A

Ceruoplasmin

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4
Q

True/False Does Wilson disease effect men and women equally?

A

True

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5
Q

Wilson disease primarily effects what organs?

A

Brain and Liver

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6
Q

What is a surgical treatment option for a patient with portal hypertension?

A

Transjugular intrahepatic shunting (TIPS)

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7
Q

What are some treatment/ preventative measures for patients with Wilson disease?

A
  • Chelation therapy to bind copper
  • Galzin- block copper absorption in GI tract
  • TIPS
  • Avoiding food with high copper levels (legumes, shellfish, nuts, liver)
  • Have water checked for copper levels
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8
Q

What is the most common bone abnormality in patients with NF-1?

A

Scoliosis

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9
Q

What chromosome is effected in NF-1?

A

Chromosome 17

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10
Q

What chromosome is effected in NF-2?

A

Chromosome 22

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11
Q

Which form of NF is tumor suppressing protein neurofibromin present?

A

NF-1

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12
Q

Which tumor suppressing protein is present in NF-2?

A

Merlin

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13
Q

Bilateral vestibular schwannomas (acoustic neuromas) and a family history are diagnostic indicators for which form of NF?

A

NF-2

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14
Q

What is a hallmark finding in NF-2?

A

Slow growing tumors on the 8th cranial nerve

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15
Q

What is the most frequent 1st symptom of NF2?

A

Hearing loss or ringing in ears (tinnitus)

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16
Q

What is the most common chromosome abnormality among liveborn infants

A

Downs

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17
Q

What is the most frequent form of intellectual disability (mental retardation)

A

Downs

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18
Q

What syndrome has a extra cope of genetic material on the 21st chromosome ( either whole or part)?

A

Downs - trisomy 21

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19
Q

Downs syndrome is caused by a

A

meiotic nondisjunction

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20
Q

How many chromosomes does a person with downs have?

A

47 ( three copies of chromosome 21)

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21
Q

what percentage of trisomy 21 is caused by nondisjunction in the maternal gamete?

A

88% (8% coming from paternal gamete)

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22
Q

Three copies of 21q - two chromosomes 21 and the long arm of chromosome 21 fused to the short arm of a chromosome 14

A

14/21 Robertsonian Translocation ( Down syndrome translocation)

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23
Q

During Robertsonian Translocation, if the long arm of chromosome 21 translocates to chromosome 1, 4 or 5, then it is considered lethal, leading to spontaneous abortion? True or False

A

True

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24
Q

What is translocation down syndrome often referred to as?

A

familial down syndrome ( this is not clinically distinguishable from trisomy 21)

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25
______ Down syndrome results when some cells in the body are normal and some cells have trisomy 21.
Mosaic
26
what is the primary target from prenatal aneuploidy screening and why?
early detection of pregnancies at high risk for trisomy 21
27
what two other screening methods use the same biochemical markers for downs syndrome?
trisomy 18, edwards syndrome
28
what is the second most autosomal trisomy among live births?
Edwards syndrome
29
what type of approach should be used when counseling patients about prenatal testing for Downs Syndrome?
nondirective; this enables patients to balance risks, limitations and benefits of prenatal screening
30
screening for down syndrome should occur before how many weeks?
20
31
assessment of maternal serum levels of specific biochemical markers associated with Downs is the most widely used approach for screening? True of false?
true; with or without ultrasound markers
32
In 2011, Sequenom launched __________, a non invasive blood test with a high level of accuracy in detecting Downs.
MaterniT21
33
As of 2015, there are 5 commercial versions of MaterniT21 called _______________ available in the US
cell-free fetal DNA screening
34
Before MaterniT21 what were the two Downs screens that carries a risk of causing miscarriage?
Amniocentesis, Chronic Villus sampling (CVS)
35
Combines sonographic determination of nuchal translucency (NT) with determination of biochemical markers associated with aneuploidy. ( pregnancy-associated plasma protein-A (PAPP-A) and free or total hCG) (Downs)
combined test ( first trimester combined test)
36
for woman who first present for prenatal care in the second trimester, what test is the best available biochemical marker-based screening for Downs?
Quadruple test ( most common screening test for Downs in 2011, 2012)
37
What four biochemical markers does the quadruple test screen/ measure for? (Downs)
1. alpha-fetoprotein (AFP) 2. unconjugated estriol 3. human chorionic gonadotropin (hCG) 4. inhibit A in maternal serum
38
Usually ultrasound and biochemical marker screening are down between how many weeks of gestation? (Downs)
11-13 weeks ( some protocols allowing 9 weeks)
39
Phenotypes of the head and neck of Downs patients
1. upslanting palpebral fissures 2. flat facial profile/ flat nasal bridge 3. folded or dysplastic ears 4. low-set small ears 5. brachycephaly (short head)
40
what are brush field spots? (Downs)
small white or grayish/brown spots in the periphery of the iris
41
average sentence length and structure
syntax
42
in downs patients, cognitive deficits are primarily in morphosyntax, verbal short-term memory , and explicit long term memory. true or false
true
43
_______ is a common comorbidity of DS, affecting as many as 7% of DS children
autism
44
what percentage of individuals with DS have congenital heart defects?
1/2
45
what percentage of DS infants were identified to have cardiovascular abnormalities ?
42% (23% had more than one type of abnormality)
46
what percentage of DS patients have complete atrioventricular septal defect (CAVSD)
37%
47
what percentage of DS patients have ventricular spatial defect (VSD)
31%
48
what percentage of DS patients have atrial septal defect (ASD)
15%
49
what percentage of DS patients have partial atrioventricular septal defect (PAVSD)
6%
50
what percentage of DS patients have tetralogy of Fallot (TOF)
5%
51
what percentage of DS patients have patent ductus arterioles (PDA)
4%
52
what percentage of downs cases have gastrointestinal disorders?
5% ( duodenal atresia or stenosis is the most characteristic lesion )
53
some gastrointestinal disorders include: (DOWNS)
tracheoesophageal fistula and esophageal atresia
54
Hirschsprung disease results in (DOWNS)
no ganglion cells in GI tract
55
ophthalmologic disorders: Refractive errors percentage Strabismus percentage
35-76% | 25-57%
56
Hearing impairment affects what percentage of individuals with downs?
38-78%
57
Endocrine abnormalities in DS include:
thyroid dysfunction, diabetes
58
Otitis media
middle ear infections, occurs in 50-70 % of DS children
59
Acute megakaryoblastic leukemia (AMKL)
mutations in GATA1 (guanine-adenine-thymine-adenine-binding factors 1 gene
60
True or False: nearly are males with DS are infertile
true (impairment of spermatogenesis)
61
Atlantoaxial instability
excess mobility of the articulation of the atlas and axis, which may lead to subluxation of C spine.
62
What percentage of DS patients have asymptomatic AAl
13%
63
Asymptomatic individuals appear to remain asymptomatic whether or not physical activity is restricted
Important ER evaluation

Clinical Genetics (4 decks)

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