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M2M Genetic Diseases > Sex Shit > Flashcards

Sex Shit Flashcards

1
Q

Turner Syndrome - Karyotype

A

45, XO

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2
Q

Turner Syndrome - Mechanism

A

Meiotic nondisjunction

only 50% are pure 45, XO (survival might be due to mosaicism)

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3
Q

Turner Syndrome - Child Clinical Presentation

A

most common chromosomal abnormality in spontaneous abortions

At birth - 
prenatal cystic hygroma
webbed neck
puffy hands and feet
heart defects (coarctation of aorta)
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4
Q

Turner Syndrome - Adult Clinical Presentation

A 
normal intelligence
infertility (non functioning ovaries)
hormone dysfunction
low set ears
broad chest
gonadal dysgenesis
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5
Q

Klinefelter - Karyotype

A

47, XXY

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6
Q

Klinefelter - Mechanism

A

Meiotic nondisjunction

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7
Q

Klinefelter - Child Clinical presentation

A

learning disabilities
delayed speech and language
quiet

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8
Q

Klinefelter - Adult Clinical presentation

A 
Tall
decreased facial and body hair
infertility
hypospadias - urethra underside of penis
gynecomastia - breast tissue swelling
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9
Q

Jacobs - Karyotype

A

47, XYY

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10
Q

Jacobs - Mechanism

A

Meiotic nondisjunction

paternal meiosis II probably

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11
Q

Jacobs - Clinical presentation

A 
physically normal
learning disabilities
speech delay
developmental delay
behavior and emotional difficulties
autisum spectrum disorders
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12
Q

Triple X - Karyotype

A

47, XXX

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13
Q

Triple X - clinical presentation

A

tall

increased risk of learning disabilities, delayed speech, delayed motor milestones, seizures, kidney abnormalities

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14
Q

Androgen Insensitivity - Inheritance

A

X-Recessive

Autosomal recessive

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15
Q

Androgen Insensitivity - Karyotype

A

46, XY

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16
Q

Androgen Insensitivity - Mechanism

A

Androgen receptor mutation

Body makes androgens but doesn’t recognize/respond to it, so doesn’t form male external genitalia

17
Q

Androgen Insensitivity - clinical presentation

A

XY with internal male genitalia but external ambiguous or female genitalia

external phenotypes range from partial to complete

18
Q

5-alpha reductase deficiency - Inheritance

A

Autosomal recessive

19
Q

5-alpha reductase deficiency - Karyotype

A

46, XY

20
Q

5-alpha reductase deficiency - Associated gene

A

5-alpha reductase

21
Q

5-alpha reductase deficiency - Mechanism

A

can’t convert testosterone to DHT

22
Q

5-alpha reductase deficiency - Clinical presentation

A 
undervirilized male (possibly looked female)
increased virilization at puberty
23
Q

Denys-Drash & Frasier Syndrome - Karyotype

A

46, XY

24
Q

Denys-Drash & Frasier Syndrome - Associated Gene

A

WT1 gene

Transcription factor for SRY gene

25
Q

Denys-Drash & Frasier Syndrome - Clinical presentation

A

Sex reversal XY to female
internal and external ranges

increase chance of wilms tumor, chronic kidney disease

26
Q

SRY Gene disorders - Inheritance

A

Y Linked

27
Q

SRY Gene disorders - List

A

Deletion SRY in 46, XY
Mutation in SRY gene in 46, XY
Ectopic SRY in 46, XX

28
Q

SRY Gene Disorders – Karyotype

A

46, XY or 46, XX

29
Q

SRY Gene

A

Testis determining factor, transcription factor

responsible for initiation of male sex determination

30
Q

Deletion SRY in 46, XY - Clinical presentation

A

full sex reversal male to female

31
Q

Mutation in SRY gene in 46, XY - Clinical presentation

A

decreased or zero production of anti-mullerian hormone

undervirilization of male

32
Q

Ectopic SRY in 46, XX - Clinical presentation

A

full sex reversal female to male

33
Q

Congenital Adrenal Hyperplasia - Inheritance

A

Autosomal recessive

34
Q

Congenital Adrenal Hyperplasia - Karyotype

A

46, XX

35
Q

Congenital Adrenal Hyperplasia - Mechanism

A

21-hydrozylase deficiency
(normally aids in synthesis of cortisol and aldosterone)

Increase in ACTH secretion due to no negative feedback via cortisol, leads to overproduction of androgens

complicated by salt wasting in first weeks of life and with metabolic stress

36
Q

Congenital Adrenal Hyperplasia - Clinical presentation

A

Ambiguous genitalia

M2M Genetic Diseases (7 decks)

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