Mutation (Nondisjunction) Flashcards

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1
Q

The failure of chromosomes or chromatids to segregate during cell division.

A

Nondisjunction

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2
Q

What is the cause of nondisjunction?

A

Abnormal number chromosomes in all the cells called “ ANEUPLOIDY” or in some cells called “MOSAICISM”.

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3
Q

What are the 5 examples of nondisjunction?

A
  • Down Syndrome
  • Edwards Syndrome
  • Patau Syndrome
  • Klinefelter’s Syndrome
  • Turner Syndrome
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4
Q

Trisomy chromosome 18th

A

Edwards Syndrome

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5
Q

Trisomy of chromosome 13th

A

Patau Syndrome

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6
Q

Contains one extra chromosome 21.

A

Down Syndrome

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7
Q

Trisomy of sex chromosomes. Here cells have 1 extra X chromosome (XXY)

A

Klinefelter’s Syndrome

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8
Q

Also known as monosomy. One of the X chromosome is missing (XO).

A

Turner Syndrome

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9
Q

What are the 4 Sex Mutation (X or Y mutation)

A

Female
-Poly-X Female
- Turner Syndrome

Male
-Jacob’s Syndrome
-Klinefelter Syndrome

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10
Q

It is characterized by the presence of an extra X chromosome, resulting in a karyotype of 47, XXX instead of the usual 46, XX.

A

Poly-X Female

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11
Q

They experience taller stature, developmental delays, learning difficulties, and an increased risk of certain health issues, such as infertility or menstrual irregularities.

A

Poly-X Female

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12
Q

It is characterized by the partial or complete absence of one X chromosomes. (44, X0)

A

Turner Syndrome

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13
Q

This condition leads to ovarian insufficiency, causing infertility and the absence of menstruation.

A

Turner Syndrome

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14
Q

Also known as XYY Syndrome, is a chromosomal disorder that occurs in males.

A

Jacob’s Syndrome

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15
Q

Have taller stature, delayed development of speech and language skills, learning difficulties and behavioral differences.

A

Jacob’s Syndrome

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16
Q

A chromosomal disorder that occurs in male.Characterized by the presence of one or more extra X chromosome.

A

Klinefelter syndrome

17
Q

Tall stature, underdeveloped testes, infertility, hormone imbalances, learning difficulties, and mild language delays.

A

Klinefelter syndrome