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Flashcards in GiM crosswords Deck (14)
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1

how many APOE haplotypes are there?

three

2

describe the phenotype of someone with treacher-collins syndrome

craniofacial deformities, involving ears, eyes and cheekbones and goes along with normal intelligence.

typical physical features:
- downward-slanting eyes
- micrognathia (a small lower jaw)
- conductive hearing loss
- underdeveloped zygoma
- drooping part of the lateral lower eyelids
- malformed or absent ears.

3

what % of the normal population has a single palmar crease?

4%

4

what is hirschsprungs disease and what congenital syndrome is it found in?

waardenburg syndrome

hirschsprungs disease is a form of megacolon where part of the bowel is malformed from birth (there's an absence of ganglion cells) and so is permanently contracted, so can't relax to allow poo to get through, causing an obstruction leading to a dilation of the proximal colon.

5

The strongest genetic association with type 2 diabetes in the Welcome Trust Case Control study was with which gene?

KCNQ1

6

which electrolyte abnormality can be seen in children with the 22q11.2 deletion (digeorge) syndrome? and why is this?

hypocalcaemia

abnormal parathyroid glands

7

what is a key sign of age-related macular degeneration (AMD)?

Drusen are tiny yellow or white deposits in a layer of the retina called Bruchs membrane. They are the most common early sign of dry age-related macular degeneration.

Drusen are made up of lipids, a type of fatty protein. They may be the result of a failure of the eye to dispose of waste products that are produced when the photoreceptors of the eye drop off older parts of the cell.

8

what % of people with DiGeorge syndrome have learning difficulties?

70%

9

what is linkage disequilibrium?

linkage disequilibrium is the non-random association of alleles at different loci. Loci are said to be in linkage disequilibrium when the frequency of association of their different alleles is higher or lower than what would be expected if the loci were independent and associated randomly.

this is about genes being close to others as they were inherited together

10

What is rhizomelia and why do people with achondroplasia have it?

relative shortness of limbs compared to trunk

because they have shortened humeruses

11

what are some of the key features of Beckwith-Wiedermann syndrome?

a congenital overgrowth disorder

Common features:
- macroglossia (large tongue),
- macrosomia (above average birth weight and length),
- midline abdominal wall defects (omphalocele/exomphalos, umbilical hernia, diastasis recti),
- ear creases or ear pits,
- neonatal hypoglycemia (low blood sugar after birth).

- increased risk of childhood cancer and certain congenital features.

12

what is the major environmental effect that increases likelihood of AMD?

smoking

13

what is Peutz-Jeghers syndrome?

autosomal dominant genetic disorder

characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis).

very very high likelihood of GI cancers

14

Sequence variants at which locus affect age of onset in Alzheimer's disease?

APOE