10/22: Craniofacial mutations Flashcards
1
Q
1/50 infants born with a genetic condition is attributed to
A
Single major mutation
2
Q
Chromosome disorders
A
Aneuploidy, deletions
3
Q
Single gene disorders
A
dominant, recessive, codominant
4
Q
multifactorial gene diseases
A
multiple genes, gene environment
5
Q
Aneuploidy
A
- aberration in chromosome #
- faulty segregation of chromosomes during mitosis/meiosis
- 1/400 infants
- Female meiosis I
6
Q
down syndrome
A
- Full or partial extra copy of chrom 21
- 1 in 700 babies
- Most common chrom condition
7
Q
95% of cases of down syndrome are
A
Nondisjunction
8
Q
the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from
nondisjunction or mosaicism
A
maternal age
9
Q
Down syndrome characteristics
A
- low muscle tone
- small stature
- cog delay
- transverse palmar crease
10
Q
How can down syndrome affect patients?
A
- Heartburn wears on the enamel
- Sleep apnea
11
Q
What 3 questions should you ask a patient with down syndrome?
A
- Heart defects
- Spinal problems
- Seizures
12
Q
Chromosomal rearrangements
A
chromosome breakage or recomb btwn mispaired chromosomes during meiosis
13
Q
Cri-du-Chat Syndrome
A
- High-pitched cry
- sounds like a cat
- 1 in 20-50,000
14
Q
Cri-du-Chat
A
- affects intellectual and development
- microcephaly
- low birth weight
- hypotonia
- transverse palmar
- heart defects
15
Q
Facial features of Cri du chat syndrome
A
- hypertelorism (wideset eyes)
- low set ears
- micrognathia
- moon facies
- epicanthal folds
- broad nasal bridge
- palpebral fissures
