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Medicine Sem 1 > Genetis Week 11 and 12 > Flashcards

Genetis Week 11 and 12 Flashcards

1
Q

What is Autosomal Aneuploidy

A

It is Aneuploid cells that have missing or additional chromosomes not in multiple of 23.
- typically one chromosome is affected, but multiple can be involved

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2
Q

Name the types of Aneuploidy

A

-Monosomy
-Trismoy

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3
Q

Explain the types of Aneuploidy

A

Monosomy: There is one copy of a chromosome in a diploid cell, almost always lethal
Trisomy: When there are three copies of a chromosome, Some are compatible with life

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4
Q

What Causes Aneuploidy

A

It results from no disjunction, where chromosome fail to separate during meiosis.
- This leads to gametes lacking a chromosome or having an extra chromosome , forming monosomic or trisomic zygotes.

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5
Q

What is Trisomy 21 also known as

A

Down syndrome

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6
Q

What is the prevelance of Trisomy 21

A
  • The most common autosomal aneuploidy compatible w life
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7
Q

What is Trisomy 21 caused by

A

Mostly Extra copy of chromosome 21( non disjunction) and also remainder is caused by Chromosome translocation

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7
Q

What is the common cause of mosaicism in Trisomy 21

A
  • A Trisomic conception followed by the loss of the extra chromosome during ,mitosis in some embryonic cells
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7
Q

Name the 2 key genes on chromosome 21

A
  • DYRK1A
    -APP
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7
Q

What are some of the associated medical conditions once somone has Trisomy 21( Down syndrome)

A
  • Respiratory infections
    -Heat defects
    -Intellectual Disability
    -Hearing loss
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7
Q

What is the function of the 2 genes on chromosome21

A

DYRK1A: Assoicated with intellectual disability
APP: Linked to Alzheimer like features

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7
Q

What are some clinical features of down syndrome

A
  • small ears
    -Round cheecks
    -Short neck
    -Short hands and feet
    -Hypotonia(Decreased muscle tone)
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7
Q

Are males Trisomy 21 sterile or non sterile

A

nearly alwways sterile

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7
Q

What does mosaicism in Trisomy 21 result in

A
  • Milder clinical expression of the phenotype
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8
Q

What is Trisomy 18 also known as

A
  • Edward sydrome
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9
Q

What is the prevelance of Trisomy 18

A
  • Second most common autosomal trisomy
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10
Q

When is trisomy 18 more common to occur

A

At conception

11
Q

What are the clinical features of Trisomy 18(Edward Syndrome)

A

-Facial and hand abnormalities
-Small ears
- Small mouth
-Heat defects

12
Q

What are the causes of Mortality in Edward syndrome

A
  • Infections
    -Heart defects
13
Q

What are the outcomes of patients who survive to infancy with Trisomy 18(ES)

A
  • Psycholotor delay which is greater than in down syndrome
    -Slow progression in milestone
    -Most do not walk independently
14
Q

What are the 2 karyotypes of Trisomy 21

A
  • 47,XY,+21 or 47,XX, +21
15
Q

What is the karyotype of Trisomy 18

A
  • 47,XY,+18
16
Q

What is the prevealnce of Trisomy 13

A

rare/less common compared to T21 and T18

17
Q

What is Trisomy 13 also known as

A
  • Patau Syndrome
18
Q

What is the karyotype of Trisomy 13

A
  • 47,XY,+13
19
Q

When does the risk of Trisomy 13 increase

A
  • with advanced maternal age
20
Q

What are the clinical features of Trisomy 13

A
  • Small malformed eyes
    -Extra fingers and toes
    -Skin defects on the posterior scalp
21
Q

Name the malformations that occur in Trisomy 13

A
  • Malformation of the CNS which is seen as Heart defects and Renal abnormalities
22
Q

What happens for the patients with Trisomy 13 that survive

A

They have severe development disabilites

23
Q

What is Turner syndrome caused by

A

Single x chromosome

24
Q

What is the karyotype for Turner syndrome

A

45,X

25
Q

What are characteristics of Turner syndrome

A
  • Short stature
    -Webbed neck
    -Triangular shaped face
26
Q

When is Turner syndrome often diagnosed

A

At birth

27
Q

What is Klinefelter Syndrome caused by

A
  • 47,XXY Karyotype
28
Q

What are the features of Klinefelter Syndrome

A
  • Tall stature
    -Small testes
    -Low testosterone levels
29
Q

What is the cognitive impact of Klinefelter syndrome

A
  • Low verbal IQ
    -Increased risk of learning disabilities
30
Q

What treatemtn is used for Klinefelter syndrome

A
  • Testosterone therapy
31
Q

What is the karyotype for Triple X female

A
  • 47 XXX
32
Q

What are the characteristics of Triple X female

A
  • Tall
    -Menstral irregularities
33
Q

What are the characteristics of 47 XYY syndrome

A

-Tall
-Reduced IQ

Medicine Sem 1 (33 decks)

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