Congenital Abnormalities Flashcards

1
Q

When is the period of vulnerability?

A

2-15 weeks post-conception during organogenesis

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2
Q

What are teratogens?

A

Any factor present in the environment of the embryo or mother causing birth defect

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3
Q

What mono genie abnormalities are there?

A

Autosomal dominant, autosomal recessive, and X-linked recessive

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4
Q

What is an autosomal dominant genetic abnormality?

A

There is a 50% chance of inheriting the defective gene, one parent has the defective gene

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5
Q

What is an autosomal recessive genetic abnormality?

A

Two defective genes must be present in order for the defect to be expressed, 50% carrier, 25% unaffected, and 25% affected

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6
Q

What is a X-linked recessive genetic abnormality?

A

Males are always affected because this defect occurs on the X chromosome. Females have another X to make up for the defective X whereas males have a Y which does not make up for the defective X

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7
Q

Which parent is a mitochondria gene disorder inherited from and why?

A

The mother because maternal gametes contain more mitochondria than paternal gametes as most of the mitochondria is lost in the tail of the sperm when it falls off

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8
Q

What type of defects are often seen in mitochondria gene disorders and why?

A

Neuromuscular defects because mitochondria genes code for proteins that make up systems in the body that create ATP and without those systems there is not enough ATP for muscles

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9
Q

What is a complex trait genetic abnormality?

A

It is a polygenic defect that involves a gene coupled with the environment

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10
Q

What types of chromosomal abnormalities are there?

A

Numerical and structural abnormalities

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11
Q

What is a numerical chromosomal abnormality?

A

Aneuploidy, too many or too little chromosomes in a pair

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12
Q

What is trisomy?

A

An extra chromosome in a pair, making there three chromosomes

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13
Q

What is monosomy?

A

A chromosome missing from a pair

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14
Q

What is Down’s syndrome called?

A

Trisomy 21

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15
Q

Describe Kleinfelter’s Syndrome

A

Trisomy on the sex chromosomes that affects males. Males have an extra X chromosome (XXY)

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16
Q

What are clinical manifestations of Kleinfelter’s syndrome?

A

Enlarged breasts, small testes, infertility, long limbs, and lack of facial and body hair

17
Q

Describe Turner’s syndrome

A

Affects females. Female is missing one X chromosome (XO)

18
Q

What are clinical manifestations of Turner’s syndrome?

A

Poor breast development, webbed neck, small stature, infertility, and broad chest

19
Q

What are three structural deficits of chromosomal abnormalities?

A

Inversion, translocation, and deletion

20
Q

What is deletion?

A

Deleting part of a chromosome and losing genetic material

21
Q

What is translocation?

A

Exchange of segments of chromosomes

22
Q

What types of inversion are there?

A

Pericentric and paracentric

23
Q

What is pericentric inversion?

A

Two breaks in a chromosome that invert around the centromere

24
Q

What is paracentric inversion?

A

Two breaks in a chromosome with the fragment inverting but remaining on same arm, not around centromere

25
Q

What are congenital abnormalities a result from?

A

Developmental errors during gestation