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Clinical Genetics > Exam 2 (DS & NF) > Flashcards

Exam 2 (DS & NF) Flashcards

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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
Q

______ Down syndrome results when some cells in the body are normal and some cells have trisomy 21.

A

Mosaic

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26
Q

what is the primary target from prenatal aneuploidy screening and why?

A

early detection of pregnancies at high risk for trisomy 21

27
Q

what two other screening methods use the same biochemical markers for downs syndrome?

A

trisomy 18, edwards syndrome

28
Q

what is the second most autosomal trisomy among live births?

A

Edwards syndrome

29
Q

what type of approach should be used when counseling patients about prenatal testing for Downs Syndrome?

A

nondirective; this enables patients to balance risks, limitations and benefits of prenatal screening

30
Q

screening for down syndrome should occur before how many weeks?

A

20

31
Q

assessment of maternal serum levels of specific biochemical markers associated with Downs is the most widely used approach for screening? True of false?

A

true; with or without ultrasound markers

32
Q

In 2011, Sequenom launched __________, a non invasive blood test with a high level of accuracy in detecting Downs.

A

MaterniT21

33
Q

As of 2015, there are 5 commercial versions of MaterniT21 called _______________ available in the US

A

cell-free fetal DNA screening

34
Q

Before MaterniT21 what were the two Downs screens that carries a risk of causing miscarriage?

A

Amniocentesis, Chronic Villus sampling (CVS)

35
Q

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)

A

combined test ( first trimester combined test)

36
Q

for woman who first present for prenatal care in the second trimester, what test is the best available biochemical marker-based screening for Downs?

A

Quadruple test ( most common screening test for Downs in 2011, 2012)

37
Q

What four biochemical markers does the quadruple test screen/ measure for? (Downs)

A
  1. alpha-fetoprotein (AFP)
  2. unconjugated estriol
  3. human chorionic gonadotropin (hCG)
  4. inhibit A in maternal serum
38
Q

Usually ultrasound and biochemical marker screening are down between how many weeks of gestation? (Downs)

A

11-13 weeks ( some protocols allowing 9 weeks)

39
Q

Phenotypes of the head and neck of Downs patients

A
  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
Q

what are brush field spots? (Downs)

A

small white or grayish/brown spots in the periphery of the iris

41
Q

average sentence length and structure

A

syntax

42
Q

in downs patients, cognitive deficits are primarily in morphosyntax, verbal short-term memory , and explicit long term memory. true or false

A

true

43
Q

_______ is a common comorbidity of DS, affecting as many as 7% of DS children

A

autism

44
Q

what percentage of individuals with DS have congenital heart defects?

A

1/2

45
Q

what percentage of DS infants were identified to have cardiovascular abnormalities ?

A

42% (23% had more than one type of abnormality)

46
Q

what percentage of DS patients have complete atrioventricular septal defect (CAVSD)

A

37%

47
Q

what percentage of DS patients have ventricular spatial defect (VSD)

A

31%

48
Q

what percentage of DS patients have atrial septal defect (ASD)

A

15%

49
Q

what percentage of DS patients have partial atrioventricular septal defect (PAVSD)

A

6%

50
Q

what percentage of DS patients have tetralogy of Fallot (TOF)

A

5%

51
Q

what percentage of DS patients have patent ductus arterioles (PDA)

A

4%

52
Q

what percentage of downs cases have gastrointestinal disorders?

A

5% ( duodenal atresia or stenosis is the most characteristic lesion )

53
Q

some gastrointestinal disorders include: (DOWNS)

A

tracheoesophageal fistula and esophageal atresia

54
Q

Hirschsprung disease results in (DOWNS)

A

no ganglion cells in GI tract

55
Q

ophthalmologic disorders:
Refractive errors percentage
Strabismus percentage

A

35-76%

25-57%

56
Q

Hearing impairment affects what percentage of individuals with downs?

A

38-78%

57
Q

Endocrine abnormalities in DS include:

A

thyroid dysfunction, diabetes

58
Q

Otitis media

A

middle ear infections, occurs in 50-70 % of DS children

59
Q

Acute megakaryoblastic leukemia (AMKL)

A

mutations in GATA1 (guanine-adenine-thymine-adenine-binding factors 1 gene

60
Q

True or False: nearly are males with DS are infertile

A

true (impairment of spermatogenesis)

61
Q

Atlantoaxial instability

A

excess mobility of the articulation of the atlas and axis, which may lead to subluxation of C spine.

62
Q

What percentage of DS patients have asymptomatic AAl

A

13%

63
Q

Asymptomatic individuals appear to remain asymptomatic whether or not physical activity is restricted

A

Important ER evaluation

Clinical Genetics (4 decks)

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