Syndromes Flashcards
What are the genetics of Edward’s syndrome?
Trisomy 18
Can be full, mosaic or partial
Not usually inherited
What are the symptoms and signs of Edward syndrome?
Small abnormally shaped head Long fingers that overlap Smooth feet with rounded soles Exomphalos Cleft lip and palate
What is he prognosis of Edwards syndrome?
Most babies die shortly before or after birth
What are the genetics of DiGeorge syndrome?
22q11 deletion
Can be random or autosomal dominant
What are the features of digeorge syndrome?
Cardiac abnormality - interrupted aortic arch, truncus arteriosus, tetralogy of fallot
Abnormal Facies
Thymic aplasia
Cleft palate
Hypocalcaemia/hypoparathyroidism
What is the prognosis of digeorge?
Spectrum
Slightly lower life expectancy
Most adults can live independently
What are the genetics of Down’s syndrome?
Trisomy 21
Usually not inherited
Translocation downs can occur - balanced translocation in a parent, unbalanced in the child
What are the features of Down’s syndrome?
Floppiness Slanting eyes Small mouth Single palmar creases Flat back of head Low birth weight
What health conditions are associated with Down’s syndrome?
Learning disability
VSD
Hypothyroidism
What are the genetics of Patau syndrome?
Trisomy 13
Usually random
Can be due to translocation (10%)
What are the features of Patau’s syndrome?
Low birth weight
Severe CHD - PDA, VSD
Holoprosencephaly
Cutis aplasia
What is the prognosis of pataus syndrome?
90% die within the first year
What is kartargener’s syndrome?
Bronchiectasis
Sinusitis
Dextrocardia
primary cilia dyskinesia
What are the genetics of kartageners syndrome?
Autosomal recessive
What is the normal screening for Down’s syndrome?
Combined test Nuchal fold translucency Maternal age Pregnancy associated plasma protein A HCG
