Genetics Flashcards
1
Q
Name features Pierre Robin sequence (3)
A
Triad
- Mandibular hypoplasia
- posteriorly displaced tongue (retroglossoptosis)
- posterior palatal defect
2
Q
How test baby with strong suspicion Down syndrome
A
Qf PCR
3
Q
How test if patient is translocation carrier in child with chromosome deletion
A
Chromosome studies
4
Q
How test child for duchenne
A
Single gene testing
5
Q
How test baby for Di George syndrome
A
Fish
6
Q
How is duchenne muscular dystrophy inherited
A
X linked recessive
7
Q
Name features beckwith wiedemann syndrome (4)
A
Chromosome 11 abnormality
Genetic overgrowth syndrome.
- macroglossia
- mandibular prognathism
- neonatal hypoglycaemia
- earlobe grooves
- facial naevus
8
Q
Describe the vacterl association
A
- Vertebral
- anorectal malformation, anus imperforatum
- cardiac
- tracheal fistula
- esophageal atresia
- renal
- limb
