Chromosomal abnormalities Flashcards
What are some trisomies?
Patau
Edwards
Down’s
What is Patau?
Trisomy 13
Varying severity
What is the presentation of PAtau?
Patau= Polydactyly and Palate
Microcephaly
Cleft lip/palate
Polydactyly
What is Edwards?
Trisomy 18
What is the presentation of Edwards?
Micrognathia Low set ears Rocker bottom feet Overlapping of fingers Don't normally make it to term/live
What is Down’s?
Trisomy 21
What is the presentation of Down’s?
Hypotonia Brachycephaly Prominent epicanthic folds Flattened face and nose Single palmar crease
What is the antenatal screening for Down’s?
US for nuchal translucency >6mm
BhCG- higher= greater risk
PAPPA- lower= greater risk
What is Down’s associated with?
Learning disability Deafness Visual problems Cardiac- AVSD, VSD, PDA, tetralogy of Fallot Hypothyroid Coeliac
What is Marfan?
Autosomal dominant
Problem with fibrillin
What is the presentation of Marfan?
Tall stature, long limbs and fingers Hypermobility Pectus carinatum/excavatum Mitral/aortic regurg High arches palate Scoliosis Flat feet Recurrent pneumothorax
What is the management of Marfan?
Manage CV risk- BB and ACEi
What is Fragile X?
X linked
What is the presentation of Fragile X?
Delay in speech and language Intellectual disability Long, narrow face Large ears Hypermobile joints Large testicles after puberty
What is the inheritance of Noonan?
Autosomal dominant
What is the presentation of Noonan?
Webbed neck Short stature Broad forehead Pectus excavatum Pulmonary stenosis
What is Prader-Willi?
Deletion of proximal arm of chromosome 15
What the presentation of Prader-Willi?
Constant insatiable hunger
Hypotonia
What is the management of Prader-Willi?
Growth hormone
Dietetics input
What is the cause of William’s syndrome?
Deletion on chromosome 7
What is the presentation of William’s syndrome?
Smiley, Sociable, Short, Starburt eyes and Stenosis Wide mouth with big smile Sociable personality Starburt eyes Short stature Learning difficulties Supravalvular aortic stenosis Associated with hypercalcaemia
What is Klinefelter?
Male with additional X chromosome so XXY
What is the presentation of Klinefelter?
Normal until puberty Taller height Wider hips, gynecomastia Weaker muscles Small testicles Subtle learning difficulties
What is the management of Klinefelter?
Testosterone injections
What is Turner?
Female with single X so XO
What is the presentation of Turner?
Short stature
Webbed neck
Widely spaced nipples
What is the management of Turner?
Oestrogen and progesterone
Growth hormone
