Genetics Flashcards
Which syndrome is associated with early onset Alzheimer’s?
Down
What is a CVS association of Down syndrome?
Congenital heart disease
What endocrine condition is associated with Down syndrome?
Hypothyroidism
What kind of ear position indicates lack of maturity?
Low set
Posteriorly rotated
What is hypertelorism?
Inner canthal distance (ICD) and inter-pupillary distance (IPD) increased
What are some notable hand measurements?
Finger length
Digital abnormalities
Palmar creases
What is arachnodactyly?
Weirdly long fingers and toes
FBN2 mutation
Associated with Marfan’s syndrome
What is brachydactyly?
Shortening of the fingers and toes due to unusually short bones
BMPR1B mutation
Associated with Turner syndrome and Albright hereditary osteodystrophy
What does acrocephalopolysyndactyly
look like?
Tall forehead
Polydactyly
Syndactyly
Sequence occurs when one abnormality leads to another. How does this apply to Pierre-Robin sequence?
Small chin to cleft palate
What is the foetal akinesia sequence?
Reduced fetal movement Reduced breathing Contractures Clefting Lung hypoplasia
What is VATER syndrome?
Vertebral anomalies/VSD
Ano-rectal atresia
Tracheo-oesophageal fistula
Radial anomalies
What are some observable features features of Turner syndrome?
Short stature Puffy feet Low hairline Webbed neck Cystic hygroma
What are some unobservable features of Turner syndrome?
Nuchal translucency Cystic hygroma Mild learning difficulty Osteoporosis Coarctation of aorta Hypothyroidism Primary amenorrhoea and infertility HT
How do we investigate genetic conditions?
Microarray
Trio-based exome
How does 22q11 present?
Cleft palate Abnormal facies Thymic hypoplasia Immune deficiency Calcium Heart problems
How does Prader-Willi syndrome present?
Infantile hypotonia Excessive appetite leading to weight gain Short stature Developmental delay Hypogonadism 15q11-q13 deletion
What are some features of Noonan’s?
Broad forehead Drooping eyelids Wide set eyes Short stature Heart defects
How might Williams syndrome present?
Wide mouth Pronounced bottom lip Upturned nose Supravalvular aortic stenosis Talkative and excessively friendly towards adults.
