Genetics and Common Craniofacial Syndromes

Question 1

Genetic material contained where in cell?

Answer 1

nucleus

Question 2

What communicates with the endoplasmic reticulum (a complex system of membranes that control transport of proteins and lipids)

Answer 2

nucleus

Question 3

substance that carries hereditary info. Its a nucleic acid made of building blocks called nucleotides arranged int antiparallel double helixes.

Answer 3

DNA

Question 4

the process of creating 2 identical DNA molecules from one.

Answer 4

Replication- the two double strands separate and a newly synthesized strand is added to each original. Its a complex process but it takes place quickly for rapid cell division and growth.

Question 5

How many nucleotides must be precisely matched for each cell division?

Answer 5

3.5x10 to the 4th

Question 6

what is a change in the sequence referred to as?

Answer 6

a mutation

Question 7

what transports genetic info from the nucleus to cytoplasm?

Answer 7

RNA- a single stranded molecule rather than a double helix

Question 8

what is the process called that creates RNA? its created as a single complementary strand of DNA template

Answer 8

Transcription

Question 9

Flow of genetic information proceeds from what through what to RNA?

Answer 9

DNA through transcription

Question 10

linear double helix strands of DNA?

Answer 10

Chromosomes

Question 11

DNA is organized into how many chromosomes?

Answer 11

46

Question 12

Each of the 22 chromosomes has 2 copies called:

Answer 12

Autosomes

Question 13

Chromosomes can be seen in a

Answer 13

karyotype (a visual profile)

Question 14

The 23rd pair are called

Answer 14

sex chromosomes- aid in determining gender

Question 15

Loss of one copy results in

Answer 15

monosomy

Question 16

gain of one extra copy is called

Answer 16

trisomy

Question 17

the presence of cells with two or more different genetic contents in a single individual

Answer 17

Mosaicism

Question 18

Chromosomal abnormalities can include:

Answer 18

deletions, duplications, inversions, and translocations

Question 19

what is autosomal recessive inheritance?

Answer 19

all people carry genes with mutations capable of causing dz.

Question 20

inheriting 2 copies of each gene and one copy that functions is

Answer 20

sufficient

Question 21

carriers are individuals that have one copy of the gene by no

Answer 21

abnormalities

Question 22

occur only when mutations are present in both genes and males and females are affected equally.

Answer 22

Autosomal Recessive Conditions

Question 23

Occurs when mutations are present in either the 2 copies of a gene. (often show one parent is affected(

Answer 23

Autosomal Dominant Inheritance

Question 24

Many autosomal dominant conditions have variable

Answer 24

expressivity

Question 25

X-linked inheritance mutations are on the

Answer 25

x-chromosome

Question 26

who are most frequently affected because they only receive one x

Answer 26

males

Question 27

What type of dominant inheritance is rare?

Answer 27

x-linked dominant inheritance- | all daughters of affected males inherit the disorder.

Question 28

An interaction of multiple genes with environmental influences...

Answer 28

Multifactorial inheritance-

Question 29

environmental factors that increase the risk of birth defects; ethanol, cigarettes, anti-epileptic meds, maternal DB, congenital infections

Answer 29

Teratogens.

Question 30

What is the purpose of a genetics eval?

Answer 30

- make a dx - dt hx of the condition to assist with medical and mx for medical and developmental issues - dt recurrence risks for parents - provide genetic psychosocial counseling

Question 31

what occurs in a genetics eval?

Answer 31

- Prenatal history-essential component to determine if fetus had any exposure to a teratogen - Medical history- important to note any medical concerns - Developmental history-milestones for development (did they roll over, babble?) - Feeding history-feeding difficulties how/when resolved (did they need a special feeder? G-Tube?) - Family history-Most important component of a genetic evaluation for tracking traits etc. - Physical examination (look at everything) - Lab and imaging studies if needed - Genetic counseling (genetic testing for bloodwork) - Psychosocial counseling (likelihood of it being passed on)

Question 32

what is a common birth defect?

Answer 32

CL with or w/o CP

Question 33

which side is more common for cleft?

Answer 33

Left

Question 34

left and right sided clefts occur more frequently than

Answer 34

bilateral CL or CP