genetic syndromes

Question 1

fragile X syndrome

Answer 1

• 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

Question 2

klinefelter

Answer 2

• 47 XXY
• tall stature
• gynecomastia
• small testes
• infertility

Question 3

hereditary fructose intolerance

Answer 3

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

Question 4

tay sachs disease

Answer 4

• 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

Question 5

niemann pick disease

Answer 5

-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

Question 6

heteroplasmy

Answer 6

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

Question 7

genomic imprinting

Answer 7

• inactivation of either paternal or maternal alleles
• prader willi and angelman syndrome

Question 8

polygenic diseases

Answer 8

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

Question 9

alkaptonuria

Answer 9

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

Question 10

Autosomal dominant Disease’s

Answer 10

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

Question 11

inheritance pattern of neurofibromatosis

Answer 11

autosomal dominant

Question 12

achondroplasia

Answer 12

mutation in fibroblast growth factor receptor 3

Question 13

Mutation in branch chain alpha keto acid

Answer 13

Maple syrup urine disease

Question 14

tay sachs and Niemann pick genetic inheritance pattern

Answer 14

autosomal recessive

Question 15

diseases with cherry red spot macula

Answer 15

tay sachs and Niemann pick

Question 16

accumulation of spingomyelin

Answer 16

nieman pick disorder

Question 17

lysosomal storage disease with hepatosplenomegaly

Answer 17

niemann pick, gaucher,

Question 18

lysosomal storage disorders are also

Answer 18

neurodegenerative diseases - motor regression

Question 19

hexosaminidase A deficiency

Answer 19

tay sachs

Question 20

gaucher disease inheritance

Answer 20

autosomal recessive

Question 21

accumulation of glucocerebroside

Answer 21

gaucher disease

Question 22

tissue paper macrophages

Answer 22

gaucher disease

Question 23

fabry’s disease inheritance

Answer 23

x linked recessive

Question 24

accumulation of ceramide trihexoside

Answer 24

fabry disease

Question 25

deficiency in alpha galactosidase

Answer 25

fabry disease

Question 26

clinical signs of fabry's disease

Answer 26

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

Question 27

late complication of fabrys disease

Answer 27

heart and kidney failure

Question 28

osteogenesis imperfectica

Answer 28

type 1 collagen disorder

Question 29

alport syndrome

Answer 29

type IV collagen disorder

Question 30

CTG trinucleotide repeat

Answer 30

myotonic dystrophy type 1

Question 31

platelet count in wiscott Aldrich syndrome

Answer 31

decreased

Question 32

platelet count in hyper IgE

Answer 32

normal

Question 33

failed obliteration of the allantois can lead to

Answer 33

patent urachus (urinate out of belly button)

Question 34

Tall stature, gynecomastia, azoospermia

Answer 34

Klinefelter

Question 35

trisomy 13

Answer 35

patau syndrome - midline defects

Question 36

Loss of paternal X chromosome

Answer 36

Turrner syndrome

Question 37

heteroplasmy

Answer 37

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

Question 38

genetic imprinting

Answer 38

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

Question 39

deficiency of glycogen debranching enzyme

Answer 39

cori disease

Question 40

tuberous sclerosis

Answer 40

- autosomal dominant - renal angiomyolipomas, subependymal hamartomas in brain, seizures, cognitive disability

Question 41

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

Answer 41

sturge-weber

Question 42

AFP and AchE in down syndrome

Answer 42

low AFP, normal AchE

Question 43

large ears, long face, macroorchidism

Answer 43

fragile X syndrome

Question 44

inability to convert phenylalanine to tyrosine

Answer 44

phenylketonuria

Question 45

cystic fibrosis

Answer 45

- most common mutation is 508 - causes abnormal protein folding leading to proteasome degradation and decreased number of transmembrane proteins

Question 46

Activating mutation in FGFR3

Answer 46

Achondroplasia, inhibits cartilage growth, auto dominant

Question 47

Pes cavus

Answer 47

High feet arches

Question 48

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

Answer 48

Friedreich ataxia

Question 49

glycogen debrancher enzyme deficiency

Answer 49

cori disease

Question 50

inheritance of G6PD

Answer 50

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

Question 51

urine with sweet smelling odor

Answer 51

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

Question 52

androgen insensitivity syndrome

Answer 52

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

Question 53

variable expressaility

Answer 53

a distinct genotype has many different phenotypes ex. marfans

Answer 54

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

Question 55

achondroplasia

Answer 55

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