Genetic Flashcards
Phenotypic characteristic
Observable characteristics high, hair color, height, dysmorphic features, short stature, developmental delay
Genetic characteristics
Homozygous dominant, heterozygous
Cannot see example would be trisomy 21 you cannot see the DNA
Genetic disorder with Presence of third 21 chromosome
Trisomy 21–downs syndrom
Down syndrome physical findings
Microcephaly Flatten nose Hyperterlorism : widely separated eyes Protruding tongue Inner epicanthal folds Upwards cleaning eyes Short broad hands and fingers with a single Palmer crease Brushfield spots-Starburst eyes Mental impairment variable
Common conditions with down syndrome
Seizures Congenital heart disease 50% Endocrine abnormalities: thyroid, DM Atlantoaxial instability (neck C-spine x-ray for sports physical) Hearing/vision impairment Obesity Leukemia
What is an increased risk factor for down syndrome
Increase maternal/paternal age is increased risk
Diagnostic for trisomy 21
Pre-or post natal chromosome analysis
How often should children with trisomy 21 receive ophthalmologist evaluations?
Every 2 years between 3-5 years of age; yearly after
50% risk of refractory errors
Annualy Trisomy 21 patient should receive these screenings…?
TSH, hemoglobin, hearing screening, vision after five years of age
XO karyotype
Turner syndrome
Missing an X chromosome on the 23rd pair
Girls love XOXO—-females affected
95% of embryos do not survive to term
Patient presents with web neck, low hairline, lack of secondary sexual characteristics, a shield shaped chest, learning disabilities
What condition is this indicative of?
Turner syndrome/XO karyotype
What heart condition is most common and turner syndrome
Bicuspid aortic valve, cortication of the aorta
Xoxo — heart /aortic
The American Academy of pediatrics include annual screenings of what for turner syndrome patients?
Blood pressure check, fasting lipid, blood glucose, liver and thyroid function test
High level of undiagnosed lipid and thyroid abnormalities, glucose intolerance, and hypothyroidism
Children turner syndrome have an increased risk for celiac disease, screening is recommended beginning at ____ at a frequency of every____ years.
2 to 3 years of age; every 2 years
XXY karyotype
Klinefelter syndrome
Sex chromosome disorder and males; wear an extra X chromosome can come from either parent
