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review / wrong answers > DIT review - Reproduction 3 > Flashcards

DIT review - Reproduction 3 Flashcards

1
Q

Most common #1 and #2 cause of genetic intellectual disability + most common cause overall

A

1 genetic cause = Trisomy 21

Most common cause overall = Fetal alcohol syndrome

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2
Q

Quad screen values in trisomy 21

A
  • Decreased alpha-fetoprotein
  • Increased b-hCG
  • Decreased estriol
  • Increased Inhibin A
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3
Q

Genetic causes of trisomy 21

A
  • 95% due to meiotic nondisjunction
  • 4% due to unbalanced Robertsonian translocation (between chromosome 14 and 21)
  • 1% due to mosaicism
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4
Q

Presentation of Edwards Syndrome

A

Trisomy 18

  • Prominent occiput
  • Rocker-bottom feet
  • Intellectual disability
  • Clenched fists
  • Low set ears
  • Micrognathia (small jaw)
  • Death usually by age 1
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5
Q

Quad screen values in trisomy 18

A
  • Decreased alpha-fetoprotein
  • Decreased b-hCG
  • Decreased estriol
  • Normal Inhibin A
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6
Q

Presentation of Patau syndrome

A

Trisomy 13

  • Intellectual disability
  • Rocker bottom feet
  • Microphthalmia
  • Microcephaly
  • Cleft lip/palate
  • Holoprosencephaly
  • Death usually by age 1
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7
Q

Abnormal values of first trimester pregnancy screen in Trisomy 13

A
  • Decreased b-hCG
  • Decreases PAPP-A (pregnancy-associated plasma protein A)
  • Increased nuchal translucency
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8
Q

Trinucleotide repeat and gene involved in Fragile X

A
  • Trinucleotide repeat – CGG
  • FMR1 gene (THINK: Fragile Mental Retardation)
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9
Q

Presentation of Fragile X

A
  • Macroorchidism
  • Long face
  • Long everted ears
  • Autism
  • Mitral valve prolapse
  • Intellectual disability
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10
Q

Chromosome abnormality and presentation of Klinefelter syndrome

A
  • 47, XXY
  • All male
  • Testicular atrophy, eunuchiod body shape, tall, long extremities, gynecomastia, female hair distribution
    • THINK: Charlie
  • Presence of barr body (inactivated X chromosome)
  • Dysgenesis of seminiferous tubules à decreased inhibin B à increased FSH
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11
Q

Chromosome abnormality and presentation of Turner syndrome (what is the cardiac abnormality?)

A
  • 45, XO
  • All female
  • Short stature, broad (shield) chest, webbed neck, streak ovary (lack of paternal X chromosome causes loss of follicles within the ovary by age 2), bicuspid aortic valve, coarctation (femoral < brachial pulse), horshoe kidney
  • Most common cause of primary amenorrhea
  • Decreased estrogen will cause increased LH and FSH
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12
Q

Presentation of Double Y Males (XYY)

A
  • 47, XYY
  • Phenotypically normal
  • Very tall, severe acne
  • May have antisocial behaviors
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13
Q

Mutation and presentation of Cri-du-Chat syndrome

A
  • Microdeletion of short arm of chromosome 5 (45, XX or 45, XY, 5p-)
  • Microcephaly, intellectual disability, high pitched crying/mewing, cardiac abnormalities
    • THINK: Cry of the Cat
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14
Q

Mutation and presentation of Williams syndrome

A
  • Microdeletion of long arm of chromosome 7 (deletion includes elastin gene)
  • “Elfin” facies, intellectual disability, hypercalcemia, well-developed verbal skills, extreme friendliess with strangers
    • THINK: Will Ferrel in the movie elf
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15
Q

What is the defect in Li-Fraumeni syndrome

A
  • Defective p53 (tumor suppressor) - multiple malignancies at an early age
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16
Q

What is the mutaiton in Neurofibromatosis type 1

A
  • Caused by mutation in NF1 gene on chromosome 17
    • This gene is responsible for control of cell division
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17
Q

Presentation of NF Type 1

A
  • Neurocutaneous disorder characterized by café-au-lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, Lisch nodules (pigmented iris hamartomas)
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18
Q

What is the mutation of neurofibromatosis type 2

A
  • Due to mutation of NF2 gene on chromosome 22
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19
Q

Presentation of Neurofibromatosis type 2

A
  • Presentation:
    • Hearing loss, tinnitus, balance problems, hyperpigmented skin lesions, cataracts
  • REMEMBER 2’s:
    • Chr 22
    • Bilateral hearing loss
    • NF Type 2
    • Cataracts
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20
Q

Mutation in Autosomal Dominant Polycystic Kidney Disease (ADPCKD)

A
  • Due to mutation in APKD1 on chromosome 16
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21
Q

Presentation of ADPCDK

A
  • Numerous cysts in cortex and medulla causing bilateral enlarged kidneys
  • Presentation:
    • Flank pain, hematuria, HTN, UTI, progressive renal failure
    • Also associated with Berry aneurysms, mitral valve, prolapse, and liver disease
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22
Q

Mutation in achondroplasia

A
  • Defect of FGFR3 (gain-of-function)
    • Normally responsible for inhibition of cartilage proliferation
  • Associated with advanced paternal age
23
Q

Presentation of achondroplasia

A
  • Failure of longitudinal (endochondral) bone growth à short limbs
  • Intramembranous bone (forms without preexisting cartilage matrix) is fine
    • Normal skull and chest
24
Q

Mutation in familal adenomatous polyposis (FAP)

A
  • Due to mutation of APC tumor suppressor on chromosome 5q
25
Q

Presentation of FAP

A
  • Thousands of polyps presenting after puberty
  • 100% progression to colorectal cancer without colectomy
26
Q

Presentation of Gardner syndrome

A
  • Familial adenomatous polyposis + tumors outside the colon
  • Osteomas / soft tissue tumors
  • Supernumerary teeth
    • THINK: Gardener from the Kaposi sketchy
      • Digging through haustra-shaped planters à FAP
      • Digs up a bone à osteoma
      • Old lady smiles with extra teeth à supernumerary teeth
27
Q

Defect in Familial Hypercholesterolemia

A
  • Increased LDL due to defective or absent LDL receptor
28
Q

Presentation of familial hypercholesterolemia

A
  • Accelerated atherosclerosis (early MI), tendon xanthomas, corneal areus
29
Q

Presentation of Hereditary hemorrhagic telangiectasia

A
  • Aka Osler-Weber-Rendu syndrome
  • Inherited disorder of blood vessels
  • Presentation:
    • Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, Gi bleeding, hematuria
30
Q

Defect in hereditary spherocytosis

A
  • Due to defect in spectrin or Ankyrin (defect in structural framework for RBC)
    • Loss of membrane blebs causes spherocytes
    • Spherocytes cannot maneuver through spleen so are consumed by splenic macrophages
31
Q

Presentation, diagnosis, and treatment of hereditary spherocytosis

A
  • Presentation:
    • Spherocytes, splenomegaly, jaundice, aplastic crisis, increased MCHC
  • Diagnosis:
    • Abnormal osmotic fragility test
  • Treatment:
    • Splenectomy
32
Q

Main characteristics of Huntington disease

A
  • C’s of disease:
    • Cognitive decline
    • Caudate atrophy
    • Chorea
    • CAG repeat
    • Chromosome cuatro (4)
    • Cuarents (40 y/o)
    • Decreased AcetylCholine
33
Q

Mutation in Marfan syndrome

A

§ Due to mutation in fibrillin gene (FBN1) which codes for a protein responsible for the production and maintenance of elastin fibers

34
Q

Presentation of Marfan

A

· Arachnodactyly

· Lens dislocation (upward)

· Floppy mitral valve (regurgitation)

· Thoracic aortic dissection

· Hyperflexible joints

35
Q

Mutation in Tuberous Sclerosis

A
  • Due to mutated hamartin (or tuberin) gene
    • TSC1/TSC2 mutation on chromosome 16
  • Incomplete penetrance and variable presentation
36
Q

Presentation of Tuberous sclerosis

A
  • Triad:
    • Angiofibromas, mental retardation, seizures
  • Other symptoms: Ash-leaf spots, hamartomas of CNS and skin, angiomyolipoma
37
Q

Mutation of von Hippel-Lindau disease

A
  • Deletion of VHL gene on chromosome 3p
38
Q

Presentation of VHL disease

A
  • Presentation = HARP
    • Hemangioblastoma (retina, brainstem, cerebellum)
    • Angiomatosis
    • bilateral Renal cell carcinoma
    • Pheochromocytoma
39
Q

Most common benign tumor of the breast

A

Fibroadenoma

40
Q

Most common breast tumor

A

Invasive ductal carcionma

41
Q

Presentation of fibrocystic change of the breast

A
  • Most common change in premenopausal breast
  • “Lumpy bumpy” breast, often bilateral
  • Hormone sensitive – presents with premenstrual breast pain
  • Cysts have a blue dome appearance on gross exam
42
Q

Presentation of fibroadenoma of the breast

A
  • Small, well-defined, mobile mass
  • Hormone sensitivity – increased size and tenderness with estrogen

Mostly in women < 35 y/

43
Q

Describe sclerosing adenosis of the breast

A
  • Too many glands in the terminal duct + fibrosis in between
  • Often calcified
44
Q

Describe intraductal papilloma of the breast

A
  • Too many glands in the terminal duct + fibrosis in between
  • Often calcified
45
Q

Describe Phyllodes tumor

A
  • Large mass of connective tissue and cysts with “leaf-like” projections on biopsy
  • Some may be malignant
46
Q

Most important prognostic factor of breast cancer?

A

Axillary lymph node involvment

47
Q

Describe ductal carcinomal in situ

A
  • Malignant proliferation of cells in ducts with no invasion of basement membrane
  • Often presents as calcification of mammography
  • Often progresses to invasive ductal carcinoma
48
Q

Describe comedocarcinoma of the breast

A
  • DCIS with central necrosis
49
Q

Presentation of invasive ductal carcinoma of the breast

A
  • Most common of all breast cancers
  • Firm, fibrous, immobile, “rock hard” mass with sharp margins
    • Distinguish from fibroadenoma due to immobility
50
Q

Describe Paget disease of the breast

A
  • Presents as eczematous patches on nipple
  • Almost always results from underlying DCIS or invasive breast cancer
51
Q

Describe lobular carcinoma in situ of the breast

A
  • Malignant proliferation of cells in lobules
  • Characterized by dyscohesive cells lacking E-cadherin
  • Often does not progress to invasive lobular carcinoma
52
Q

Describe invasive lobular carcinoma of the breast

A
  • Grows in a single file pattern
  • Cells may exhibit signet ring morphology
53
Q

Describe inflammatory carcinoma of the breast

A
  • Invasion of dermal lymphatics
  • Peau d’orange (breast resembles an orange peel - dimpling)

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