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Cleft Palate Genetics and Common Craniofacial Abnormalities > Genetics and Common Craniofacial Syndromes > Flashcards

Genetics and Common Craniofacial Syndromes Flashcards

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Biology 101 flashcards
1
Q

Genetic material contained where in cell?

A

nucleus

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2
Q

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

A

nucleus

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3
Q

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

A

DNA

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4
Q

the process of creating 2 identical DNA molecules from one.

A

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.

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5
Q

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

A

3.5x10 to the 4th

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6
Q

what is a change in the sequence referred to as?

A

a mutation

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7
Q

what transports genetic info from the nucleus to cytoplasm?

A

RNA- a single stranded molecule rather than a double helix

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8
Q

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

A

Transcription

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9
Q

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

A

DNA through transcription

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10
Q

linear double helix strands of DNA?

A

Chromosomes

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11
Q

DNA is organized into how many chromosomes?

A

46

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12
Q

Each of the 22 chromosomes has 2 copies called:

A

Autosomes

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13
Q

Chromosomes can be seen in a

A

karyotype (a visual profile)

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14
Q

The 23rd pair are called

A

sex chromosomes- aid in determining gender

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15
Q

Loss of one copy results in

A

monosomy

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16
Q

gain of one extra copy is called

A

trisomy

17
Q

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

A

Mosaicism

18
Q

Chromosomal abnormalities can include:

A

deletions, duplications, inversions, and translocations

19
Q

what is autosomal recessive inheritance?

A

all people carry genes with mutations capable of causing dz.

20
Q

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

A

sufficient

21
Q

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

A

abnormalities

22
Q

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

A

Autosomal Recessive Conditions

23
Q

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

A

Autosomal Dominant Inheritance

24
Q

Many autosomal dominant conditions have variable

A

expressivity

25
Q

X-linked inheritance mutations are on the

A

x-chromosome

26
Q

who are most frequently affected because they only receive one x

A

males

27
Q

What type of dominant inheritance is rare?

A

x-linked dominant inheritance-

all daughters of affected males inherit the disorder.

28
Q

An interaction of multiple genes with environmental influences…

A

Multifactorial inheritance-

29
Q

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

A

Teratogens.

30
Q

What is the purpose of a genetics eval?

A
  • 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
31
Q

what occurs in a genetics eval?

A
  • 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)
32
Q

what is a common birth defect?

A

CL with or w/o CP

33
Q

which side is more common for cleft?

A

Left

34
Q

left and right sided clefts occur more frequently than

A

bilateral CL or CP

Cleft Palate Genetics and Common Craniofacial Abnormalities (1 decks)

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