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KARYOTYPE CONDITIONS Flashcards

1
Q
  • Turner’s syndrome
    • The scientific name
    • The karyotype
    • Distinguishing clinical features
A
  • Turner’s syndrome
    • The scientific name - Monosomy X
    • The karyotype - 45, X
    • Distinguishing clinical features
      • Small stature
      • Pterygium colli deformity
      • Low posterior hairline
      • Broad chest with widely spaced nipples
      • Prominent ears
      • Narrow palate and small jaw
      • Heart defects
      • Kidney abnormalities
      • Ovarian disfunction/sterility
      • Learning disabilities
      • Lethal in >90% of conceptuses
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2
Q
  • Down’s syndrome (Classic)
    • The scientific name
    • The karyotype
    • Distinguishing clinical features
A
  • Down’s syndrome (Classic)​
    • The scientific name - Trisomy 21
    • The karyotype - 47, XX, +21
    • Distinguishing clinical features
      • Epicanthal folds
        • Prolongation of skin fold on the upper eyelid, covering the inner corner of the eye
      • Increases gap between 1st and 2nd toe
      • Mildly reduce stature
      • Delayed puberty
      • Upslanted palpebral fissures
      • Single palmer crease
      • Small ears
      • Increased nuchal fold
      • Flat facial profile
      • Bowl obstructions
      • Hypotonia
      • Heart defects
      • Cognitive delays
      • Mild to moderate intellectual disability
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3
Q
  • Balanced translocation (Carrier)
    • The karyotype
    • Distinguishing clinical features
A
  • Balanced translocation (Carrier)​
    • The karyotype - 45, XY, der(14;21)(q10;q10)
    • Distinguishing clinical features
      • Robertsonian translocation
      • Increased risk of Down’s syndrome
      • Male versus female transmission rates differ
      • Females - risk is approximately 15% at amniocentesis
      • Males - risk is 0.5% or less
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4
Q
  • Unbalanced translocation (Down’s syndrome)
    • The karyotype
    • Distinguishing clinical features
A
  • Unbalanced translocation (Down’s syndrome)
    • The karyotype - 46, XY, der(14;21)(q10;q10), +21
    • Distinguishing clinical features
      • Small ears
      • Hypotonia
      • Bowel destruction
      • Flat facial profile
      • Upslanted palpebral fissures
      • Delayed puberty
      • Epicanthal folds
      • Increased gap between 1st and 2nd toe
      • Single palmar crease
      • Mildly reduced stature
      • Increased nuchal fold
      • Cognitive delays
      • Mild to moderate intellectual disabilities
      • Heart defects
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5
Q
  • Diplo-Y “Super Male”
    • The scientific name
    • The karyotype
    • Distinguishing clinical features
A
  • Diplo-Y “Super Male”
    • The scientific name - XYY syndrome
    • The karyotype - 47, XYY
    • Distinguishing clinical features
      • Prominent glabella
        • Area of the forehead in the midline between the supraorbital ridges, just above the nasal root
      • Tall stature
      • Increased length vs. breadth of: Ears, hands, fingers and toes
      • Decreased strength
      • Poor coordination
      • Delayed development
      • May have learning disabilities
      • May have behaviour problems
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6
Q
  • Wolf-Hirschhorn syndrome
    • The scientific name
    • The karyotype
    • Distinguishing clinical features
A
  • Wolf-Hirschhorn syndrome
    • The scientific name - Deletion dillian 4p syndrome
    • The karyotype - 46, XX, del(4)(p16.3)
    • Distinguishing clinical features
      • Prenatal onset growth deficiency
      • Microcephaly
      • Prominent glabella
      • Ocular hypertelorism
      • Broad and beaked nose
      • Low-set ears
      • Preauricular tag/pit
      • Cleft lip/and or palate
      • Down-turned mouth
      • Club feet
      • Seizures intellectual disability
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7
Q
  • Edward’s syndrome
    • The scientific name
    • The karyotype
    • Distinguishing clinical features
A
  • Edward’s syndrome
    • The scientific name - Trisomy 18
    • The karyotype - 47, XY, +18
    • Distinguishing clinical features
      • Growth deficiency
      • Low set ears
      • Cleft lip/or palate
      • Small jaw
      • Short sternum
      • Heart defects
      • Kidney abnormalities
      • Clenched hand with overlapping fingers
      • Rocker-bottom feet
      • Serve intellectual disability
      • Lethal/very high mortality rate
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8
Q
  • Triple-X
    • The scientific name
    • The karyotype
    • Distinguishing clinical features
A
  • Triple-X
    • The scientific name - Trisomy X
    • The karyotype - 47,XXX
    • Distinguishing clinical features
      • Development is almost normal
      • Long limbs compared to torso
      • Taller and slimmer than average
      • Slightly quiet and passive
      • Slightly reduced IQ
      • Slightly delayed motor and linguistic skills
      • Puberty normal
      • Fertility in normal range
      • Tendency for back problems
      • 1 in 1,000 femaile births
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9
Q
  • Triploidy
    • The karyotype
    • Distinguishing clinical features
A
  • Triploidy
    • The karyotype - 69, XXY
    • Distinguishing clinical features
      • Large placenta with hydatidiform changes
      • Disproportionate growth deficiencies
      • Structural brain abnormalities
      • Ocular hypertelorism
      • Low nasal bridge
      • Low-set ears
      • Small jaws
      • Heart defects
      • Kidney abnormalities
      • Syndactyly of the 3rd and 4th fingers
      • Club feet
      • Survival to term, rare
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10
Q
  • Cri-du-chat syndrome
    • The scientific name
    • The karyotype
    • Distinguishing clinical features
A
  • Cri-du-chat syndrome
    • The scientific name - Short arm of chromosome 5 is deleted
    • The karyotype - 46, XX, del(5)(p15.3)
    • Distinguishing clinical features
      • Low birth weight
      • Poor growth
      • Cat-like cry
      • Hypotonia
      • Microcephaly
      • Down-slanted palpebral fissures
      • Hypertelorism
      • Intellectual disability
      • Delayed development
      • High mortality rate
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11
Q
  • Klinefelter’s syndrome
    • The scientific name
    • The karyotype
    • Distinguishing clinical features
A
  • Klinefelter’s syndrome
    • The scientific name - XXY trisomy
    • The karyotype - 47, XXY
    • Distinguishing clinical features
      • Long limbs
      • Possible gynecomastia
      • Tall and slim stature
      • Hypogonadism
      • Hypospadias
      • Infertility
      • Learning disabilities
      • May have poor psychological adjustment
      • Delayed speech and language
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12
Q
  • Patau’s syndrome
    • The scientific name
    • The karyotype
    • Distinguishing clinical features
A
  • Patau’s syndrome
    • The scientific name - Trisomy 13
    • The karyotype - 47, XY, +13
  • Distinguishing clinical features
    • Microcephaly
    • Microphthalmia
    • Cutis aplasia of the scalp
    • Midline abnormalities
      • Including holoprosencephaly
    • Heart defects
    • Kidney abnormalities
    • Polydactyly
    • Severe intellectual disability
    • Lethal/very high mortality rate
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GH (4 decks)

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