Genetic And Congential Disorders Flashcards Preview

Pathology Block 12 > Genetic And Congential Disorders > Flashcards

Flashcards in Genetic And Congential Disorders Deck (25):
1

Marfan‘ s syndrome gene type

Autosomal dominant

2

Neurofibromatosis gene type

Autosomal dominant

3

Gene type of familial adenomatous polyposis (FAP)

Autosomal dominant

4

Gene type of hemophilia A

X-linked recessive

5

Significance of CHRPE “bear tracks”

Linked to familial adenomatous polyposis (FAP)

6

What is the primary risk of a deficiency of folic acid during early pregnancy

Neural tube defects

7

What mutation causes CHRPE bear tracks to be autosomal dominant vs autosomal recessive?

Can be autosomal recessive if there is a mutated MYH glycosylase gene (MUTYH), a DNA repair gene

8

Key characteristics of an autosomal dominant

-single mutated allele that is expressed if present
-transmitted from affected parent to an offspring regardless of sex
-chance of inherited in the disorder is 50%
-Disorders often involve structural proteins and usually appears later in life (CHRPE)

9

Key characteristics of autosomal recessive

-often looks like sex-linked, but shows in boys and girls equally
-expressed only when both autosomal alleles are affected
-requires homozygous
-both parents usually heterozygous
-chance of inheriting is 25%
-disorders often involve enzymes

10

Key characteristics of X-linked genetic condition

-most associated with X chromosome
-mostly recessive diseases
-females rarely affected
-passed from mother to son
-50% chance of transmitting defective gene to sons, son has disease
-50% chance of making daughters carriers
-affected fathers do not pass to their sons

11

Condition of having a diploid chromosome complement in which one (usually the X) chromosome lacks its homologous partner

Monosomy

12

Type of polysomal in which there are three instances of a particular chromosome, instead of the normal two. Type of aneuploidy

Trisomy

13

Chromosomal abnormality in which fetuses are born with an extra set of chromosomes in their cells. The three sets make it

Triploid (triploidy)

14

Chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.

Translocation

15

Mutation in which a part of a chromosome or a sequence of DNA is lost during DNA replication

Deletion

16

A major mechanism through which new genetic material is generated during molecule evolution

Duplication

17

A chromosome rearrangement in which a segment of a chromosome is reversed end to end. This occurs when a single chromosome undergoes breakage and rearrangement within itself

Inversion

18

Agents associated with causing abnormalities during embryonic/fetal development

Teratogens

19

When are teratogens most likely to cause major congenital abnormalities?

1st trimester

20

TORCH organisms

Maternal infection as a teratogens to child
-toxoplasmosis
-syphillis, varicella, mumps, parvovirus, HIV
-rubella
-CMV
-herpes

21

Tissue tested in amniocentesis

Fluid

22

Tissue used for chorionic villi sampling (CVS)

Tissues

23

When is amniocentesis preformed

After the first trimester

24

When is CVS (chorionic villi sampling) done

During first trimester

25

Which is more invasive, amniocentesis or CVS

CVS