32. Genetics Flashcards
Discuss Down’s syndrome
Trisomy 21 Learning disabilities variable Congenital heart disease (VSD) Hypothyroidism Immunity Early onset Alzheimer’s
What are the different causes of congenital diseases
Single gene disorders
Chromosomal
Teratogens
Unknown
What testing can be done for genetic diseases?
Standard biochemical, chromosome structure
Targeted testing
Moving to exome/genome
What is a genome?
All of someone’s genetic material
What is an exome
all of the coding parts of a gene
What are the features of a dysmorphic child?
Position and shape or facial features
Hands
Growth of child
General features
What is hypertelorism?
Eyes too far apart
What is telecanthus
Abnormal eyes due to skin folds e.g. downs
What is VATER syndrome
Vertebral/VSD
Anorectal atresia
Tracho-
Eosophageal fistula
Radial abnormality
Discuss tuners syndrome
Coarctation of the aorta Lymphoedema Increased carrying angle Short stature (mild learning difficulty) Coarctation of the aorta, hypothyroidism, UTI 45XO only females
How do you test learning disability?
Microarray
Fragile X
Targeted tests driven by phenotype
Research based- becoming clinical around the world (exome)
What are the symptoms of 22q11 deletion syndrome?
Cleft palates Abnormal fancies Thymidine hypoplasia/immune deficiency Calcium Heart problems.
Discuss Turner’s syndrome?
45XO (only females)
Discuss Marfans?
Mitral valve prolapse
Stretch marks
Tall
Loose joints
Eye problems
