Genetics Flashcards
Trisomy 21?
Down syndrome
Extra 21 chromosome
What health associations does Down syndrome have?
Learning disability
Congenital heart disease
Hypothyroidism
Early onset Alzheimer’s
What is looked at in the head for clues of genetic syndromes?
Shape
Size: macrocephaly or microcephaly
Ear position- low set, posteriorly rotated indicates lack of maturity
What is looked at in the eyes for clues of genetic syndromes?
Hypertelorism- eyes are too far apart from each other. Inner canthal distance (ICD) and inter-pupillary distance (IPD) both increased
Telecanthus/epicanthic folds- ICD and IPD increased
What is looked at in the hands for clues of genetic syndromes?
Finger length
Digital abnormalities
Palmar creases
Which genetic syndrome causes long, thin fingers?
Marfans syndrome
In which genetic syndrome would you see a single palmar crease?
Down syndrome
->but can occur in the general population too
What is looked at in the fingers for clues of genetic syndromes?
Arachnodactyly- low, slender fingers
Brachydactyly- short fat fingers
What is meant by polysyndactyly?
More toes or fingers that you should, with some being stuck together
What is one genetic mutation where polysyndactyly is a feature?
Hox D13
Features of Vater syndrome?
Hint use vater as an acronym
Vertebral anomalies
Ano-rectal atresia
Tracheo-oEsophageal fistula
Radial anomalies
Features of Turner syndrome?
Wide spaced nipples
Short stature
Coarctation of aorta
Primary amenorrhagia and infertility
List the features that 22q11 deletion is associated with.
Cleft palate
Abnormal facies
Thymic hypoplasia/immune deficiency
Heart problems
->children can lose food out of their noses