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Flashcards in Congenital Abnormalities Deck (25):
1

When is the period of vulnerability?

2-15 weeks post-conception during organogenesis

2

What are teratogens?

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

3

What mono genie abnormalities are there?

Autosomal dominant, autosomal recessive, and X-linked recessive

4

What is an autosomal dominant genetic abnormality?

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

5

What is an autosomal recessive genetic abnormality?

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

6

What is a X-linked recessive genetic abnormality?

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

7

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

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

8

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

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

9

What is a complex trait genetic abnormality?

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

10

What types of chromosomal abnormalities are there?

Numerical and structural abnormalities

11

What is a numerical chromosomal abnormality?

Aneuploidy, too many or too little chromosomes in a pair

12

What is trisomy?

An extra chromosome in a pair, making there three chromosomes

13

What is monosomy?

A chromosome missing from a pair

14

What is Down's syndrome called?

Trisomy 21

15

Describe Kleinfelter's Syndrome

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

16

What are clinical manifestations of Kleinfelter's syndrome?

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

17

Describe Turner's syndrome

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

18

What are clinical manifestations of Turner's syndrome?

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

19

What are three structural deficits of chromosomal abnormalities?

Inversion, translocation, and deletion

20

What is deletion?

Deleting part of a chromosome and losing genetic material

21

What is translocation?

Exchange of segments of chromosomes

22

What types of inversion are there?

Pericentric and paracentric

23

What is pericentric inversion?

Two breaks in a chromosome that invert around the centromere

24

What is paracentric inversion?

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

25

What are congenital abnormalities a result from?

Developmental errors during gestation