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Flashcards in FMS Week 2 Deck (61):
1

characteristics of trisomy 18

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

2

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

turner syndrome

3

Ideal testing for turner syndrome

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

4

Treatment of Turner syndrome

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

5

Phenylketonuria

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

6

BMPR1A gene syndromes

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

7

Lysomal storage disorder and characteristic

Hunter syndrome: clinical and radiologic signs/symptoms

8

what is the life expectancy of trisomy 21

55-60 years

9

what are the issues with mendelian inheritance?

doesn't account for de novo mutations or germline inheritance

10

FBN1 gene

fibrillin protein, associated with Marfan syndrome

11

Methylmalonic Aciduria

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

12

organic acid disorder and characteristic

methylmalonic aciduria: elevation of diagnostic acid in urine

13

Describe genetics of cystic fibrosis

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

14

Describe the inheretence of neurofibromatosis?

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

15

describe genetics of phenylketonuria

autosomal recessive, Variable prevalence among global populations, variable expression

16

Hereditary fructose intolerance

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

17

translocation down syndrome

3rd copy of 21 on p arm of 14 or 22.
t(14;21)

18

recurrence risk of trisomies

1% (unless robertsonian translocation)

19

origin of williams syndrome

varying 7q11 deletions

20

what is germline mosaicism?

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

21

karyotype of turner syndrome

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

22

carbohydrate disorder and characteristic

hereditary fructose intolerance: clinical suspicion

23

original names of 22q11 deletion syndrome

digeorge or velocardiofacial

24

origin of 22q11 deletion syndrome

90% de novo, autosomal dominant in appearance

25

Achondroplasia inheritance

80% de novo, autosomal dominant, most are hemizygotes

26

MCAD

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

27

Describe genetics of sickle cell disease

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

28

cosanguinity

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

29

Lesch-Nyhan disease

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

30

hunter syndrome

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

31

signs/symptoms of turner syndrome

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

32

SRY gene

deletion on Y chromosome leads to XY female syndrome

33

Purine/Pyrimidine disorder and characteristic

Lesch-Nyhan syndrome: hyperuricemia

34

Ideal testing for 22q11 deletions

probably FGH, FISH is also useful in the "nested region"

35

life expectancy of trisomy 13

10% beyond a few months

36

Vitamin disorder and characteristic

Biotinidase: clinical suspicion and relevant lab studies

37

banding patterns

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

38

LCR

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

39

what is mendelian inheritance?

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

40

FGFR3 gene

negative regulator of bone growth, associated with achondroplasia

41

characteristics of Williams syndrome

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

42

signs and symptoms of cystic fibrosis

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)

43

describe the penetrance of autosomal recessive traits

complete penetrance, no alternative copy

44

life expectancy of trisomy 18

10% beyond a few months

45

what are the issues with CGH

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

46

urea cycle defect and characteristic

Ornithine transcarbamylase: elevation of ammonia and diagnostic amino acid

47

5p- syndrome

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

48

what is the leading genetic cause of intellectual disability

aneuploidy

49

juvenile polyposis syndrome

BMPR1A gene syndrome

50

Describe Marfan syndrome?

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

51

Amino acid disorder and characteristic

phenyketonuria: elevation of diagnostic amino acids on amino acid quantitation

52

what is dysmorphology?

the study of birth defects

53

Ornithine transcarbamylase deficiency

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

54

biotinidase disorder

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

55

Lipid disorder and characteristic

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

56

Wolf-Hirschorn syndrome

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

57

characteristics of trisomy 13

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

58

characteristics of 22q11 deletion syndrome

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

59

Describe achondroplasia?

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

60

WAGR syndrome

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

61

best testing for Williams syndrome

CGH