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Unit 1 > Disorders > Flashcards

Disorders Flashcards

1
Q

Flat facies, upturned palpebra fissures, microphthalmia, clinodactyly, sandal gap deformity, single palmer creases, hypotonia , microcephaly, Bushfield spots

A

Down Syndrome

Quad screen results: increased hCG, inhibin A; decreased AFP, estriol

Nuchal translucency

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2
Q

Why are people with Down Syndrome more likely to develop Alzheimer’s disease?

A

C21 has a gene that codes for amyloid precursor protein. Because individuals with DS has three copies of the gene, they generate higher amounts of amyloid.

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3
Q

Cat-like cry, microcephaly, hypertelorism, epicanthal folds, low set ears, microretrognathia, poor feeding, low birth weight

A

Cru-di-chat; caused by microdeletion of C5

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4
Q

Male, tall, underdeveloped secondary sexual characteristics, gynecomastia, language difficulties

A

Klinefelter Syndrome

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5
Q

Female, short, webbed neck, lymphedema, broad chest, cubitis valgas, hearing loss, edema of hands/feet, cardiac anomalies, renal abnormalities, delayed puberty

A

Turner Syndrome

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6
Q

Conotruncal cardiac anomalies (truncus arteriosus, tetralogy of Fallot, interrupted aortic arch), hypoplastic thymus (immunodeficiency), hypocalcemia (underdevelopment of parathyroid glands), variable craniofacial abnormalities (high arched palate, retrognathia, long face with prominent nose, hypertelorism, low-set ears, smooth philtrum), hypernasal speech, intellectual disability

A

DiGeorge Syndrome (22q11.2 deletion)

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7
Q

Cat eye syndrome

A

22q11.2 tetrasomy

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8
Q

MicroPhthalmia (small eyes)
Cutis aPlasia (holes in head)
HoloProsencephaly (hemispheres not separated)
Polydactyly
Polycystic kidney disease
Cleft lip and/or Palate

Also: Rocker bottom feet, clenched fists, microcephaly, severe intellectual disability, congenital heart disease (VSD, ASD), micrognathia, omphalocele

A

Patau syndrome (Trisomy 13)

Quad screen shows: decreased hCG, normal AFP, estriol and inhibin A

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9
Q

Edward Syndrome (Trisomy 18)

A

PRINCE Edward

Prominent occiput
Rocker Bottom Feet
Intellectual disability
Nondisjunction
Clenched fists with overlapping fingers
Ears, low set

Also: congenital heart disease

Quad screen shows: decreased AFP, hCG and estriol; normal or decreased inhibin A

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10
Q

“Elfin” facies, intellectual disabilities, hypercalcemia, supravalvular stenosis, renal artery stenosis, over-friendly children, problems with attention

A

Williams Syndrome; microdeletion of C7 - elastin gene

Elfin facies - broad forehead, elongated philtrum, short palpebral fissures, flattened nasal bridge

Hypercalcemia - not common in congenital diseases, due to increased Vit D activity

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11
Q

Paternal disomy, loss of maternal expression

Inappropriate laughter

A

Angelman Syndrome

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12
Q

Maternal disomy, loss of paternal expression

Uncontrolled hunger

A

Prader-Willi Syndrome

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13
Q

Fragile X syndrome

A

X-linked dominant inheritance - caused by CGG repeat expansion in FMR1 gene

Premutation: ataxia, ovarian insufficiency

Full mutation: Long narrow face, prominent forehead and jaw, large everted ears, mitral valve prolapse, above average head circumference, autistic, hyperactivity, language development

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14
Q

Anemic features: fatigue, lethargy, conjunctival pallor
Intermedia: present at birth w/jaundice, anemia
Major: not compatible with life

Target cells

A

alpha-thalassemia

alpha deletion on C16

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15
Q

Anemic features
hemolytic anemia, prominent skeletal (often facial) deformities

Target cells

A

Beta-thalassemia

B-gene point mutation on C11

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16
Q

Bernard-Soulier Syndrome

A

GpIb receptor deficiency - decreases adhesion

GpIb receptors are found on vWF which binds platelets to the injured endothelial cells

Increased BT(PFA), unaffected by Ristocetin (distinguishes BSS from GT)
Mucosal membrane bleeding, menorrhagia, easy bruising

Shows giant platelets on PBS

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17
Q

Glanzmann Thrombasthenia

A

GpIIB receptor deficiency - decreases aggregation

GpIIb receptors are found on platelets which binds fibrinogen

Increased BT(PFA), normal platelet count

Mucous membrane bleeding, easy bruising

18
Q

Bernard-Sourlier Syndrome and Glanzmann Thombasthenia inheritance pattern

A

X-linked recessive

19
Q

Hemophilia A (patho, tests, clinical, inheritance)

A

Factor VIII deficiency

Increased aPTT, normal platelet, BT(PFA), PT

Hemophilic arthropathy - hallmark for hemophilia
Melena (bloody stool), hematuria

X-linked recessive, Materal FHx

20
Q

von Willebrand disease (patho, tests, clinical, inheritance)

A

Decreased vWF levels, decreased function of vWF, or no vWF at all

Increased BT(PFA), increased PTT, normal PT, normal platelet count

Autosomal dominant

21
Q

Hemophilia B (patho, tests, clinical, inheritance)

A

Factor IX deficiency

Increased aPTT, normal platelet, BT(PFA), PT

Hemophilic arthropathy - hallmark for hemophilia
Melena, Hematuria

X-linked recessive, Maternal FHx

22
Q

Pathogenesis, clinical presentation and diagnosis of ITP

A

Antibodies target GpIIb receptors on platelets - target platelets for destruction in the spleen

Clinical presentation: Epistaxis (nosebleeds), menorrhagia, petechiae, mucous membrane bleeding

Testing shows low platelet quantity, elevated bleeding time, increased megakaryocytes, giant platelet

23
Q

Name the condition and cytogenic nomenclature

A

Trisomy 18 - Edwards Syndrome

47, XY, +18

24
Q

Name the condition and cytogenic nomenclature

A

Deletion of C5 - Cru di chat

46, XY, del(5p)

25
Q

Name the condition and cytogenic nomenclature

A

Additional X chromosome - Kleinfelter Syndrome

47, XXY

26
Q

Name the condition and cytogenic nomenclature

A

Missing sex chromosome - Turner Syndrome

45, XO

27
Q

Name the condition and cytogenic nomenclature

A

Trisomy 21 - Down Syndrome

47, XY, +21

28
Q

Name the condition and cytogenic nomenclature

A

Trisomy 13 - Patau Syndrome

47, XX, +13

29
Q

Name the condition and cytogenic nomenclature

A

Monosomy 14 - deletion C6

45, XX,-14,del(6q)

Poor prognosis - spontaneous abortion

30
Q

What is the mode of inheritance?

A

Autosomal dominant

31
Q

This shows autosomal dominant inheritance, what other factor could be involved?

A

Incomplete Penetrance

32
Q

What is the mode of inheritance?

A

X-linked dominant

33
Q

What is the mode of inheritance?

A

X-linked recessive

34
Q

What medication can be used for vWF disease and what is it’s MOA?

A

Desmopressin

It increases vWF and factor VIII levels in the plasma by increasing the release of vWF from the endothelial cells

35
Q

Neurofibromatosis type 1 (NF1) etiology and clinical presentation

What type of gene expression does it exhibit?

A

Mutation in NF1 gene
Development of Lisch nodules, cafe au lait spots, neurofibromas, and pheochromocytomas

Pleiotropy - a gene affecting multiple phenotypic traits

36
Q

Clinical presentation and lab findings for Vitamin K deficiency

A

Hypovolemic - less volume in blood
Tachycardia - compensatory mechanism for low blood volume
Petechiae or ecchymosis

Low Hgb
Low MCV
Low Iron
Low Ferritin
High TBC
Showing Iron deficiency anemia

Prolonged PT, PTT, normal platelet count, Factor levels normal but function low

37
Q

Why are patients with atherosclerosis at risk of arterial thrombus formation?

A

Build up of plaque can cause vessel occlusion which can cause venous stasis, or the turbulence going through the vessels can cause vWF to unwind.

Venous system is more fibrin rich, lower pressure and flow = more clots
Arterial system is more platelet rich, higher pressure and flow = more activation of platelets

38
Q

Xeroderma Pigmentosum

A

Caused by defective Nucleotide excision repair

UV radiation causes thymidine dimers in the DNA which can’t be removed due to defective NER –> leads to other mutations

Autosomal recessive

39
Q

Familial Adenomatous Polyposis

A

Defective Base Excision Repair

Autosomal Dominant defect of APC gene (WNT pathway)
or
Autosomal recessive defect in DNA glycosylase enzyme

40
Q

Lynch Syndrome

A

Mismatch Repair Defect

Autosomal dominant mutation in MLH1 or MLH2 –> microsatellite instability, unstable number of repeating nucleotides

Leads to hereditary non-polyposis colorectal cancer

Unit 1 (9 decks)

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