Genetics Flashcards
1
Q
Array CGH detects:
A
Chromosome imbalance
2
Q
Which parts are spliced out?
A
Introns (non-coding)
3
Q
Intellectual disability
A
Learning difficulty in acquiring new skills or learn at slower/different rate to peers
Impairment of mental abilities: conceptual (maths, reasoning, memory), social (empathy, judgement, friendships), practical
4
Q
Kabuki syndrome
A
Speech and language delay Cleft palate Lateral lower eyelid turned out Drooling Short 2nd phalanx of 5th finger
