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(DIT) Rapid Fire + 4/5 Stars > Chromosomal/storage disorders > Flashcards

Chromosomal/storage disorders Flashcards

1
Q

Robertsonian translocation

A

4% of downs

nonreciprocal chromosomal translocation
chromosome pairs
long arms of acrocentric chromosome fuse at centromeres –> loss of short arms

Downs: 14:21 - normal

  • -> risk of Down syndrome in offspring
  • not associated w/ advanced maternal age
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2
Q

Down syndrome - Trisomy 21

A

MC trisomy

Intellectual disability, flat facies, prominent epicanthal folds, simian crease, increased gap between 1st and 2nd toes

duodenal atresia

endocardial cushion defects

Increased risk of ALL, AML, and Alzheimers “ALL fall Down”

Polycythemia

Quad screen: low AFP, high b-hCG, low estriol, high inhibin A - put in Alpha order, start with Down arrow and alternate

US: increased nuchal translucency (seen in Turners too)

Maternal nondisjunction of homologous chromosomes during anaphase of meiosis I

Advanced maternal age over 35 (over 45 1:25)

Mosaicism

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3
Q

Edward syndrome - trisomy 18

A

death before 1 yo

intellectual disability, rocker bottom feet, micrognathia, clenched hands, prominent occiput

Quad: all low, normal inhibin A

can get nuchal tranlucency on US

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4
Q

Patau syndrome

A

trisomy 13
defective SHH, death before 1 yo
Intellectual disability, rocker bottom feet, microcephaly, cleft lip and palate, holoprosencephaly (single midline eye), polydactyly, congenital heart disease

Pregnancy screening: low b-hCG, low PAPP-A

US: increased nuchal translucency
Cant use triple/quad screen to dx

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5
Q

Double Y males

A

47 XYY

phenotypically normal
Tall
severe acne
Antisocial behavior
normal fertility
possible association w/ autism spectrum disorders
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6
Q

Cri-du-chat syndrome

A

“cry of the cat”

Microcephaly
Moderate to severe intellectual disability syndrome

high pitched crying and mewing

epicanthal folds

cardiac abnormalities

Chr 5p deletion

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7
Q

William syndrome

A

Elfin facies, intellectual disability
Hypercalcemia d/t hypersensitivity to vit D
valve defects
Good verbal skills, friendliness with strangers

microdeletion of long arm of Chr7

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8
Q

22q11 deletion syndromes

A

DiGeorge syndrome, velocardiofacial syndrome

Cleft lip, abnormal facies
Thymic aplasia resulting in T cell deficiency
Cardiac defects
Parathyroid hypoplasia –> hypocalcemia

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9
Q

Autosomal dominant polycystic kidney disease

A

B/L enlargement of kidneys d/t multiple cysts

flank pain, hematuria, HTN, progressive renal failure

Mutation of APKD1 on Chr 16

Assoc w/ berry aneurysms

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10
Q

Achondroplasia

A

Dwarfism

defect of FGFR3 receptor

Associated with advanced PATERNAL age

AD but 75% sporadic mutation

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11
Q

Familial adenomatous polyposis

A

colon covered in polyps after puberty
-colectomy or colon CA

APC gene mutation

AD

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12
Q

Gardner Syndrome

A 
AD
Osteomas
Lipomas
Sebaceous cysts
Colon polyps
Colon cancer
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13
Q

Familial hypercholesterolemia

A

Type IIA hyperlipidemia

Markedly elevated LDL from defective or absent LDL receptor

Heterozygous LDL > 300
Homozygous LDL > 700 - very severe atherosclerotic disease early in life, tendonous xanthomas, xanthelasmas
-mild MI before 20

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14
Q

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome)

A

Abnl blood vessel formation in skin, mucous membranes, organs

Telangiectasias, recurrent epistaxis, skin discolorations, arteriovenous malformations, chronic GI tract bleeding

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15
Q

Hereditary spherocytosis

A

Spheroid erythrocytes d/t defect in spectrin or ankyrin - structural framework of RBC

Increased blood viscosity

Hemolytic anemia and jaundice - hemolysis worsens w/ viral infections

Normal or slightly decreased MCV, increased MCHC d/t membrane loss and dehydration

Tx: splenectomy

Dx testing: hemolytic anemia, spherocytes on peripheral smear, osmotic fragility test

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16
Q

Huntington disease

A

Neurodegenerative disorder –> cognitive decline, psychiatric problems

Decreased GABA and ACh in brain

Cs: Cognitive decline, Caudate atrophy, Chorea, CAG repeats, Chr cuatro (4), age 40, decreased ACh

17
Q

marfan syndrome

A

connective tissue disorder d/t fibrillin gene mutation

Pectus excavatum, hyperextensible joints, long extremities, long finger and toes (arachnodactyly)

Cystic medial necrosis of aorta - aortic valve regurgitation, aortic aneurysm, aortic dissection

Mitral valve prolapse - floppy

Subluxation of lenses

18
Q

Multiple endocrine neoplasias 1

A

MEN1 gene

PPP - parathyroid adenomas, pituitary adenomas, pancreatic tumors

19
Q

Multiple endocrine neoplasias 2A and B

A

RET gene mutation

2A: PPM: parathyroid adenomas, pheochromocytoma, medullary thyroid cancer

2B: PMM: pheochromocytoma, medullary thyroid cancer, mucosal neuromas

20
Q

Neurofibromatosis type I (von Recklinghausen)

A

AD
Mutation of gene on Chr 17 - cell divsion gene

Cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), scoliosis

21
Q

Neurofibromatosis type II

A

B/L acoustic neuroma (CNVIII)
hearing loss, tinnitus, balance problems, cataracts, other neural tumors

Chr 22 mutaiton

22
Q

Tuberous sclerosis

A

Mutation of hamartin or tuberin gene

Facial lesions - adenoma sebaceum
hypopigmented ash-leaf spots
cortical and retinal hamartomas
seizures
intellectual disability
cardiac rhabdomyomas
astrocytomas

incomplete penetrance

23
Q

von Hippel-Lindau disease

A

Hemangioblastomas of retina, cerebellum, medulla

50% b/l renal cell carcinoma

Pheochromocytomas

Deletion of VHL gene –> expression of HIF and activation of angiogenic growth factors

24
Q

Fragile X syndrome

A

2 MC genetic cause of intellectual disability, #3 over all

X linked, trimucleotide repeat disorder CGG

Mutation of FMR1 gene (fragile mental regardation)
-codes for FMRP - cytoplasmic protein in brain and testes involved in mRNA translocaiton of axons and dendrites

Intelectual disability, macro-orchidism, long face, large jaw, everted ears, mitral valve prolapse

25
Q

Friedreich ataxia

A

AR, trinucleotide repeat GAA
Mutation of frataxin - mitochondrial protein in iron detoxifying and storage

degeneration of sensory neurons, hypertrophic cardiomyopathy, DM

staggering gait, frequent falling, nystagmus, dysarthria, pes cavus, hammer toes

presents in childhood with kyphoscoliosis

26
Q

Trinucleotide repeat disease

A

more repeats w/ each generation

genetic anticipation
-increased disease severity and/or decreased age of onset w/ successive generations

27
Q

Cystic fibrosis

A

Defect in CFTR on Chr 7

recurrent pulmonary infection (Pseudomonas), bronchiectasis, pancreatic insufficiency, meconium ileus, infertility in males (absence of vas deferens), fat soluble vitamin deficiencies, salty taste

Dx: sweat chloride test >60 mEq/L

Tx: N-acetylcysteine (cleaves disulfide bonds in mucus glycoproteins –> loosening mucus), Abx (fluoroquinolones), pancreatic enzymes, fat soluble vitamines

28
Q

Fabry disease

A

X linked recessive

alpha-galactosidase –> accumulation of ceramide trihexoside

Pain - damage to peripheral nerves (neuropathy)
renal failure
HTN
cardiomyopathy
angiokeratomas - painless papules - lower abd, back, groin
Early childhood
Lipid accumulation in GI tract vessels –> ischemia and pain

“My Fabrite activity is Ceramics, we made a GalaXy”

29
Q

Gaucher disease

A

AR
MC lysosomal storage disease

deficient glucocerebrosidase –> accumulation of glucocerebroside - lipid like in macrophages of spleen, liver, kidney, bone marrow, brain

HSM, painful bony lesions, anemia, fatigue, thrombocytopenia (d/t enlarged spleen)

Prominent blue cytoplasmic fibrils - crumpled tissue paper - macrophages

“Oh my Gauch, he’s such a Bro” in crying voice

30
Q

Niemann-Pick disease

A

AR
Deficient sphingomyelinase –> accumulation of sphingomyelin - lipid like

HSM, thrombocytopenia
ataxia, dysarthria, dysphagia
Gradual worsening of intellectual function

Cherry red spot on macula and foam cells

Ashkenazi Jews

“Pick you big nose w/ your splinger”

31
Q

Tay-Sachs disease

A

AR
Deficient hexosaminidase A –> accumulation of GM2 ganglioside

Worsening mental and physical abilities
death by 4
cherry red spot on macula

Infantile type sx begin at 6 mo

no HSM!

Ashkenazi Jews

“A Gang of 6 (hexo) small Jews”

32
Q

Krabbe disease

A

AR
deficient galactocerebrosidase –> accumulation of galactocerebroside

Affects myelin sheath --> peripheral neuropathy
seizures
optic atrophy
weakness
developmental delay

Globoid cell “glob of krab meat”

Sx at 3-6 months
Death by 2 yr

“Galactic krab”

33
Q

Metachromatic leukodystrophy

A

AR
Deficient Arylsulfatase –> accumulation cerebroside sulfate

Affects myelin sheath, muscle wasting, weakness, progressive vision loss, dementia

Sx after 1 yr

34
Q

Hurler syndrome

A

Gargoylism

AR
Deficient alpha-L-iduronidase –> accumulation of heparan sulfate and dermatan sulfate

Normal at birth
–> progressive deterioration, coarse facial features, HSM, intellectual disability, poor growth (resembles dwarfism), corneal clouding –> vision loss

Hurler-Scheie and Scheie lesser forms, later onset

35
Q

Hunter syndrome

A

X linked recessive “X marks the spot for Hunters”

Deficient iduronate sulfatase –> accumulation of heparan sulfate and dermatan sulfate

Milder form of Hurlers
later onset of 1-2 years
no corneal clouding “need vision to hunt”
Aggressive behavior

36
Q

X linked recessive disorders

A

“Oblivious Female Will Give Her Boys Her (x)Linked Disorders”

Ocular albinism
Fabry disease
Wiskott-Aldrich
G6PD deficiency
Hunter syndrome
Bruton agammaglobulinemia
Hemophilia A/B
Lesch-Nyhan Syndrome
Duchene muscular dystrophy

(DIT) Rapid Fire + 4/5 Stars (162 decks)

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