Genetics Flashcards
1
Q
types of chromosomal disorders & their genetic abnormality?
A
- Down’s Syndrome
- trisomy 21
- Edwards
- trisomy 18
- Patau’s
- trisomy 13
- Klinefelters
- XXY
- Turners
- 45, XO
2
Q
key features of down syndrome
A
- single palmar crease
- low set ears
- severe learning difficulties
- hypotonia
3
Q
associations w downs syndrome
A
- alzheimer’s
- leukaemia
- AVSD
- GI - duodenal atresia & hirschprung’s
4
Q
key features of edwards syndrome
A
- microcephaly
- overlapping fingers
- rocker-bottom feet
5
Q
key features of patau
A
- dysmorphic features
- structural abnormalities
- severe learning difficulties
- rocker bottom feet
6
Q
key features of Turners
A
- short stature
- webbed neck
- wide spaced nipples
- delayed puberty
7
Q
association w turners
A
co-arctation of aorta
8
Q
key features of klinefelters
A
- tall stature
- hypogonadism and small testes
- gynaecomastia
- behavioural problems
9
Q
outline 2 autosomal dominant genetic abnormalities
A
- neurofibromatosis
- Marfan’s
10
Q
key features of marfan’s
A
- tall
- long limbs/digits
- hyperextensible joints
- high-arched palate
11
Q
associations with Marfan’s
A
- aortic dissection
- valve incompetence
- recurrent pneumothorax
12
Q
outline a trinucleotide repeat genetic disorder, and some of its features
A
Fragile X
low IQ, prominent ears, enlarged testicles
13
Q
outline an imprinting genetic disorder
A
Prader-Willi
14
Q
key features of prader-willi
A
- insatiable hunger & obesity
- learning difficulties
- hypotonia
15
Q
symptoms and signs of 22q11
A
ie DiGeorge Syndrome
Cleft palate
Abnormal faces
Thymic hypoplasia/ immunodeficiency
Calcium reduced
Heart problems
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