Paeds Genetics Flashcards
1
Q
What is the karyotype for Turner’s?
A
45X0
2
Q
What is the presentation of turner’s syndrome?
A
- widely spaced nipples
- lymphoedema @ birth
- Cardiac abnormalities - coarctation of the aorta, aortic stenosis
- short stature
- delayed puberty
- horse shoe kidneys
- coeliac disease
3
Q
What is the karyotype and presentation of someone with Klinefelter’s syndrome?
A
- 45XXY
- boy’s with tall stature
- delayed puberty
- gynaecomastia
- hypogonadism
4
Q
What anomalies are associated with Down’s syndrome?
A
- Cardiac - VSD, AVSD and tetralogy of falot
- Endo: addison’s disease and T1DM
- cataracts
- leukaemia
- Gastro: duodenal atresia and hirschprung’s disease
- AD
5
Q
How is prada-willi syndrome inherited?
A
-imprinting disorder - loss of part of paternal chromosom
6
Q
How does prada-willi present?
A
- excessive appetite/over eating
- restricted growth
- hypotonia
- LD
- lack of sexual development
- behavioural problems - temper tantrums/stubbornness
7
Q
When and what makes up the first trimester combined test?
A
- 11-13 weeks
- USS - nuchal translucency measurement (thickened)
- bloods - Pregnancy-associated plasma protein A (decreased), beta-HCG (increased)
8
Q
When and what makes up the Quadruple screening test for down’s?
A
- 15-18 weeks
- free estriol (decreased)
- alpha fetoprotein (decreased)
- inhibin A (increased)
- beta -HCG (increased)
9
Q
What 2 ways can you do karyotyping for downs? when can you do them?
A
- chorionic villus sampling - 1st trimester 10-13
- amniocentesis - 3rd trimester 15-20
