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MOD > Genetic Disorders - Complex Multigenic and chromosomal nomenclature > Flashcards

Genetic Disorders - Complex Multigenic and chromosomal nomenclature Flashcards

1
Q

What type of inheritance do complex multigenic disorders have?

A

Multifactorial inheritance

environment + 2 or more genes

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2
Q

What is multifactorial inheritance?

A

Environment + 2 or more gene interactions

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3
Q

What type of inheritance do complex multigenic disorders have?

A

Multifactorial inheritance

environment + 2 or more genes

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4
Q

What is the most common cause of congenital malformation?

A

Multifactorial inheritance

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5
Q

What are examples of complex multigenic disorders?

A

Cleft palate, cleft lip, neural tube defects

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6
Q

Common symptoms of complex multigenic disorders?

A

Range of levels of severity

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7
Q

What are complex multigenic disorders commonly confused with?

A

Mendelian

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8
Q

How many chromosomes do humans have?

A

23 pairs = 46

  • 22 pairs of autosomes
  • 1 pair of sex chromosomes
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9
Q

Euploid

A

Multiple of 23

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10
Q

Aneuploid

A

NOT an exact multiple of 23

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11
Q

What 2 things can cause Aneuploid?

A

Nondisjunction

Anaphase lag

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12
Q

Nondisjunction gametes will have +/- ___ chromosome

A

1

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13
Q

Anaphase lag gametes will have?

A

1 normal cell and 1 monosomy cell

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14
Q

Can you give birth if the child has monosomy?

A

NO

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15
Q

Mosaicism

A

2 or more populations of cells with different chromosomal complement

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16
Q

In what chromosomes is Mosaicism common?

A

Sex chromosomes

17
Q

Ring Chromosome

A

Breaks at each end of a chromosome with fusion of the remaining ends to form a ring

18
Q

2 types of Inversion?

A

Paracentric

Pericentric

19
Q

Paracentric Inversion?

A

Inversion of 2 pieces on 1 arm of the chromosome

20
Q

Pericentric Inversion?

A

Inversion of 2 pieces on opposite arms of chromosome

21
Q

Isochromsome

A

1 arm of chromosome is lost

= 2 short or 2 long arms ONLY

22
Q

Balanced Reciprocal Translocation

A

Single breaks in 2 chromosomes that perfectly exchange material
= NO LOSS OF MATERIAL

23
Q

Is there loss of material with Balanced Reciprocal Translocation?

A

NO

24
Q

Balanced Reciprocal Translocations have a ___ phenotype, but?

A

Normal

= Increased risk of producing abnormal gametes

25
Q

Robertsonian Translocation

A

Translocation between 2 chromosomes, breaks appear really close to centromere
= 1 large chromosome and 1 small that is lost

26
Q

End result of a Robertsonian Translocation?

A

1 large chromosome and 1 small one that is usually lost

27
Q

What chromosomal disease can occur via Robertsonian Translocation?

A

Trisomy 21

MOD (68 decks)

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