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FMS > FMS Week 2 > Flashcards

FMS Week 2 Flashcards

1
Q

signs and symptoms of cystic fibrosis

A

neonatal: bowel blockage (meconium ileus), abdominal calcifications

Infancy: failure to thrive, chronic diarrhea, pneumonia.

childhood: nasal polyposis, intussusception
adulthood: nasal polyposis, bronchiectasis, delayed puberty, male reproductive issues (azoospermia)

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2
Q

characteristics of trisomy 18

A

low frontal hairline, narrowed eyelids, blunt nasal tip with small nostrils, small chin, “fawn” ears, high nasal bridge

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3
Q

life expectancy of trisomy 13

A

10% beyond a few months

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4
Q

what is germline mosaicism?

A

when a parent contains either multiple distinct cell lines or a de novo mutation arises in reproductive cells, resulting in inheritance from otherwise non genotypic parents

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5
Q

cosanguinity

A

more commonly in pedigrees involving recessive diseases, the amount of shared DNA due to relation

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6
Q

Lesch-Nyhan disease

A

x-linked recessive, cannot reclaim purines, defect in HGPRT, neurologic disfunction and self mutilation, clinical suspicion and elevated uric acid, treated with low purine diet, allopurinol, and other symptomal medications

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7
Q

Phenylketonuria

A

Autosomal recessive, loss of phenylalanine hydroxylase (PAH) activity. Accumulation of PHE because it cannot be converted to tyrosine

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8
Q

signs/symptoms of turner syndrome

A

increased nuchal fold, congenital heart defects, lack of puberty, edema in hands/feet, scoliosis/kyphosis, streak ovaries

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9
Q

Ideal testing for 22q11 deletions

A

probably FGH, FISH is also useful in the “nested region”

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10
Q

characteristics of trisomy 13

A

holoprosencephaly, atypical median cleft lip, microphthalmia, closed hand, polydactyly, cryptorchidism, congenital heart disease, cystic kidneys

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11
Q

Hereditary fructose intolerance

A

autosomal recessive, cannot metabolize fructose to glucose (inactive fructoaldolase (aldolase B)), vomiting and hypoglycemia, hepatomegaly and renal disfunction, clinical suspicion, restrict fructose consumption

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12
Q

origin of williams syndrome

A

varying 7q11 deletions

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13
Q

Wolf-Hirschorn syndrome

A

pre/postnatal growth deficiency, broad nasal root (greek warrior helmet), developmental delays, seizures, hypotonia

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14
Q

Describe genetics of cystic fibrosis

A

mutations in CFTR, a chloride channel gene. Autosomal recessive, most common in caucasians

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15
Q

Lipid disorder and characteristic

A

Medium acyl-CoA dehydrogenase (MCAD): Diagnostic intermediates on urine organic acid quantitation

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16
Q

original names of 22q11 deletion syndrome

A

digeorge or velocardiofacial

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17
Q

best testing for Williams syndrome

A

CGH

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18
Q

what are the issues with CGH

A

deviation has to be compared to that of normal CNVs, cannot detect balanced translocations

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19
Q

FBN1 gene

A

fibrillin protein, associated with Marfan syndrome

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20
Q

increased nuchal fold, congenital heart defects, lack of puberty, edema in hands/feet, streak ovaries

A

turner syndrome

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21
Q

banding patterns

A

the “address” of genetic locations on a chromosome determined by varying stains, each band can contain many genes

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22
Q

Treatment of Turner syndrome

A

cardiology/renal consultation, audiology evaluation, genetic counseling, support group referral, regular monitoring, supraphysiological growth hormone doses, high estrogen/steroid doses

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23
Q

Purine/Pyrimidine disorder and characteristic

A

Lesch-Nyhan syndrome: hyperuricemia

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24
Q

SRY gene

A

deletion on Y chromosome leads to XY female syndrome

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25
Q

what is dysmorphology?

A

the study of birth defects

26
Q

urea cycle defect and characteristic

A

Ornithine transcarbamylase: elevation of ammonia and diagnostic amino acid

27
Q

LCR

A

low-copy repeats, repetitive segments with 95% sequence identity, mismatch during crossing over leads to deletions

28
Q

translocation down syndrome

A

3rd copy of 21 on p arm of 14 or 22.

t(14;21)

29
Q

hunter syndrome

A

Iduronidase-2 sulfatase defect, x linked recessive, accumulation of mucopolysaccharides (dermatan and heparin), diagnosed by enzyme assay, treated with enzyme replacement

30
Q

carbohydrate disorder and characteristic

A

hereditary fructose intolerance: clinical suspicion

31
Q

Ideal testing for turner syndrome

A

definitely karyotype, FISH recommended due to gonadoblastoma risks of Y chromosome material

32
Q

describe genetics of phenylketonuria

A

autosomal recessive, Variable prevalence among global populations, variable expression

33
Q

Describe achondroplasia?

A

FGFR3 gene, autosomal dominant, short-limbed dwarfism, obstructive apnea and some developmental motor delays, complete penetrance

34
Q

WAGR syndrome

A

deletion at 11p13, WT1 gene, genital anomalies, retardation of growth and development, aniridia

35
Q

origin of 22q11 deletion syndrome

A

90% de novo, autosomal dominant in appearance

36
Q

what is mendelian inheritance?

A

single gene inheritance, pedigree analysis, autosomal or sex-linked, dominant or recessive

37
Q

karyotype of turner syndrome

A

absence of all or part of X chromosome, 50% 45,X. 25% mosaic (can include Y), various deletions etc.

38
Q

characteristics of Williams syndrome

A

aortic stenosis, depressed nasal bridge, epicanthal folding, eye puffiness, blue eyes, wide mouth, delayed development, cocktail personality, hypercalcemia

39
Q

describe the penetrance of autosomal recessive traits

A

complete penetrance, no alternative copy

40
Q

5p- syndrome

A

“cri du chat”, hypotonia/laryngeal abnormality, growth restriction, microcephaly, round face/spaced eyes, single palmar creases, moderate/severe intellectual disability

41
Q

Vitamin disorder and characteristic

A

Biotinidase: clinical suspicion and relevant lab studies

42
Q

what is the life expectancy of trisomy 21

A

55-60 years

43
Q

characteristics of 22q11 deletion syndrome

A

congenital heart disease, palatal abnormalities, velopharyngeal incompetence, characteristic facial features, learning difficulties, immune deficiency, hypocalcemia, hearing loss

44
Q

biotinidase disorder

A

cannot reclaim/recycle biotin, an important vitamin in carboxylation reactions, symptoms include alopecia, dermatitis, deafness, seizures, and neurologic deterioration starting about 4 to 6 months of age, diagnosis by enzyme assay, treated with biotin supplementation

45
Q

BMPR1A gene syndromes

A

juvenile polyposis syndrome (JPS), polyps in the GI tract, juvenile refers to type of polyp, bleeding and anemia, mostly benign, increased risk of GI cancers

46
Q

Methylmalonic Aciduria

A

autosomal recessive, acidosis in first week of life potentially coma, lack of methylmalonyl-CoA mutase, cannot convert methylmalony.-CoA into succinyl-CoA in Krebs cycle (catabolism of amino acids, cholesterol, fatty acids), methylmalonic acid is elevated, treated by low dietary protein and B 12 supplements

47
Q

Ornithine transcarbamylase deficiency

A

X linked recessive, severe neurologic damage, low citrulline levels, build up of ammonia, treated by low protein diet and ammonia scavenger medications

48
Q

FGFR3 gene

A

negative regulator of bone growth, associated with achondroplasia

49
Q

recurrence risk of trisomies

A

1% (unless robertsonian translocation)

50
Q

juvenile polyposis syndrome

A

BMPR1A gene syndrome

51
Q

Describe Marfan syndrome?

A

FBN1 gene, effects fibrillin protein, dilated aortic root, ectopia lentis, dural ectasia, Autosomal dominant, 100% penetrance

52
Q

Amino acid disorder and characteristic

A

phenyketonuria: elevation of diagnostic amino acids on amino acid quantitation

53
Q

Achondroplasia inheritance

A

80% de novo, autosomal dominant, most are hemizygotes

54
Q

MCAD

A

medium chain acyl-CoA dehydrogenase deficiency, lethargy and vomiting following fasting, hypoglycemia, hepatomegaly, elevated fatty acid intermediates, treated by avoiding fasting and rapid treatment of hypoglycemia

55
Q

what is the leading genetic cause of intellectual disability

A

aneuploidy

56
Q

Describe the inheretence of neurofibromatosis?

A

NF1 gene, Autosomal dominant, 100% penetrance, variable expressivity, 1/2 of all cases de novo

57
Q

life expectancy of trisomy 18

A

10% beyond a few months

58
Q

Lysomal storage disorder and characteristic

A

Hunter syndrome: clinical and radiologic signs/symptoms

59
Q

organic acid disorder and characteristic

A

methylmalonic aciduria: elevation of diagnostic acid in urine

60
Q

what are the issues with mendelian inheritance?

A

doesn’t account for de novo mutations or germline inheritance

61
Q

Describe genetics of sickle cell disease

A

point mutation producing HbS gene. autosomal recessive. heterozygotes have 40% HbS, homozygotes 100%

FMS (10 decks)

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