Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

p90x uworld > genetic syndromes > Flashcards

genetic syndromes Flashcards

1
Q

fragile X syndrome

A
  • x linked dominant trinucleotide repeat CGG (chin, giant gonads) in the FMR1 gene
  • loss of function of FMR1 gene on X chromosome (hypermethylation)
  • features prominent after puberty
  • long narrow face
  • prominent chin and forehead
    -hyperlaxity of joints
    -developmental delay
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

klinefelter

A
  • 47 XXY
  • tall stature
  • gynecomastia
  • small testes
  • infertility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

hereditary fructose intolerance

A

aldolase B
- vomiting and hypoglycemia
-20 - 30 min after digestion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

tay sachs disease

A
  • auto recessive
  • neurodegenerative disease
  • lysosomal function disease (onion skin lysosomes)
  • beta hexosaminadase A deficiency (no amenities for hicks)
  • GM2 ganglioside (glycoplipid component of cell membranes) accumulation (2 gangsters) toxic to neurons
  • regression of motor skills
  • bright red fovea centralis - red cherry macula
  • NO hepatosplenomegaly
  • onset 6 months
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

niemann pick disease

A

-accumulation of sphingomyelin (toxic to brain and spinal cord)
-cherry red macula spots in eyes
-hepatosplenomegaly*
-lysosomal storage disease
-foam cells, lipid laden macrophages*
- neurodegeneration - loss of developmental milestones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

heteroplasmy

A

-variable degrees of severity due to amount of mitochondrial DNA inherited

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

genomic imprinting

A
  • inactivation of either paternal or maternal alleles
  • prader willi and angelman syndrome
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

polygenic diseases

A

SHIT AGE
- schizophrenia
- hypertension
- ischemic heart disese
- T2D
- androgenic alopecia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

alkaptonuria

A

autosomal recessive
deficiency of homogentisic acid dioxygenase
- deposits of blue sclera and blue ears
- ankylosis, motion restriction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Autosomal dominant Disease’s

A

Von von Als rb MEN
Tubes and spheres and Huntington’s
Marfans elhlers Dan
Nf 1/2 don’t FAP too much
Autosomal dominant yes this song is clutch

Von hippo lindau
Von willibrand
Amyolateral sclerosis
Retinoblastoma
Men
Tuberous sclerosis
Hereditary spherocytosis
Huntington’s
Marfans
Ehlers danlos
Neurofibromatosis 1/2
Familial adenomatous polyposis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

inheritance pattern of neurofibromatosis

A

autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

achondroplasia

A

mutation in fibroblast growth factor receptor 3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Mutation in branch chain alpha keto acid

A

Maple syrup urine disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

tay sachs and Niemann pick genetic inheritance pattern

A

autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

diseases with cherry red spot macula

A

tay sachs and Niemann pick

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

accumulation of spingomyelin

A

nieman pick disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

lysosomal storage disease with hepatosplenomegaly

A

niemann pick, gaucher,

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

lysosomal storage disorders are also

A

neurodegenerative diseases - motor regression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

hexosaminidase A deficiency

A

tay sachs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

gaucher disease inheritance

A

autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

accumulation of glucocerebroside

A

gaucher disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

tissue paper macrophages

A

gaucher disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

fabry’s disease inheritance

A

x linked recessive

24
Q

accumulation of ceramide trihexoside

A

fabry disease

25
Q

deficiency in alpha galactosidase

A

fabry disease

26
Q

clinical signs of fabry’s disease

A

peripheral neuropathy, angiokeratomas (benign capillary tumors), hypohydrosis (decreased sweating)

27
Q

late complication of fabrys disease

A

heart and kidney failure

28
Q

osteogenesis imperfectica

A

type 1 collagen disorder

29
Q

alport syndrome

A

type IV collagen disorder

30
Q

CTG trinucleotide repeat

A

myotonic dystrophy type 1

31
Q

platelet count in wiscott Aldrich syndrome

A

decreased

32
Q

platelet count in hyper IgE

A

normal

33
Q

failed obliteration of the allantois can lead to

A

patent urachus (urinate out of belly button)

34
Q

Tall stature, gynecomastia, azoospermia

A

Klinefelter

35
Q

trisomy 13

A

patau syndrome - midline defects

36
Q

Loss of paternal X chromosome

A

Turrner syndrome

37
Q

heteroplasmy

A

responsible for clinical variability of mitochondrial diseases (during mitosis, mitochondria are randomly distributed between daughter cells)

38
Q

genetic imprinting

A

selective inactivation of maternal or paternal alleles, seen in prader will syndrome vs angel man syndrome

39
Q

deficiency of glycogen debranching enzyme

A

cori disease

40
Q

tuberous sclerosis

A
  • autosomal dominant
  • renal angiomyolipomas, subependymal hamartomas in brain, seizures, cognitive disability
41
Q

rare congenital vascular disorder characterized by facial port wine stain and leptomeningeal capillary venous malformation

A

sturge-weber

42
Q

AFP and AchE in down syndrome

A

low AFP, normal AchE

43
Q

large ears, long face, macroorchidism

A

fragile X syndrome

44
Q

inability to convert phenylalanine to tyrosine

A

phenylketonuria

45
Q

cystic fibrosis

A
  • most common mutation is 508
  • causes abnormal protein folding leading to proteasome degradation and decreased number of transmembrane proteins
46
Q

Activating mutation in FGFR3

A

Achondroplasia, inhibits cartilage growth, auto dominant

47
Q

Pes cavus

A

High feet arches

48
Q

Kyphoscoliosis, pes cavus, bilateral lower extremity ataxia, loss of proprioception and vibration sense

A

Friedreich ataxia

49
Q

glycogen debrancher enzyme deficiency

A

cori disease

50
Q

inheritance of G6PD

A

x linked recessive, causes acute hemolysis after exposure to certain medications or fava beans

51
Q

urine with sweet smelling odor

A

maple syrup urine disease - branch chain keto acid dehydrogenase deficiency - restrict leucine, isoleucine, and valine

52
Q

androgen insensitivity syndrome

A

happens in XY males, no internal development because of loss of the androgen receptor, so can’t differentiate into male sex organs. absent internal organs and female external organs, diagnosed in adolescence due to primary ammenorhea

53
Q

variable expressaility

A

a distinct genotype has many different phenotypes ex. marfans

54
Q
A

interactions between multiple genes that combine to create a new phenotype or mask/modify a phenotype

55
Q

achondroplasia

A

FGFR3 mutation, macrocephaly, frontal bossing, midface hypoplasia, trident hand, shortened limbs, genu varum,

p90x uworld (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions