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
Tall body and a male patient, in complete pubertal development, Female pubic hair pattern, poor beard growth,gynecomastia, learning difficulty,Personality/behavioral impairment( shy, immature)
Symptoms of Klinefelter syndrome
Infertility, low testosterone/low libido, hard testicles are common
Does Klinefelter syndrome have heart defects?
No
How did patients with Klinefelter syndrome appear at birth
Normal; Presents and puberty
Normal development then at 6 months child stops walking starts crawling…
Tay Sachs
Normal development 3-6 months progressive deterioration
Inherited connective tissue disorder affecting skeletal, cardiac, and opthamalic body systems
Marfan syndrome
AMA: aortic regurgitation, mitral valve prolapse, aortic aneurysm
Common heart conditions with Marfan syndrome
Phenotypical presentation: Tell stature, arm span exceeds height, thin, long narrow face, hyper extension of joints,pectus carinatum/ excavatum
Symptoms Marfan
Long face, big ears, strabismus/nystagmus, adhd or autism , seizure , shy, velvet skin , joint hyper mobility
Fragile X syndrome
Cherry red macula
Tay Sachs
Lateral displacement inner can think, short palpebral fissure, short Phil trim , aortic arch (cardiac), hypocalcemia,in creased infections cleft palate
Digeorge
CATCH 22
Digeorge
C—ARDIAC—AORTIC ARCH
A—abnormal facies ( eyes, ear, big tongue)
T—thymus / hyperplasia /parathyroid involved (normally increase ca)
C—left palate
H—ypocalcemia
22–deletion
& poor immunity
Digeorge TX
No cure
Infection—abx, Vit D and ca2 supplement
Thin upper lip, flat philanthropic, short palpebral fissures , growth retardation
Fetal alcohol
Supravalvular aortic stenosis
Williams syndrome
Cheerful/ elfin facies / DD/ short stature // blue eye starry pattern
Williams syndrome
Can have hypercalcemia/ umbilical hernias
VSD, rocker bottom feet, overlapping fingers, hypotonia , small head , clenched hands
Trisomy 18 — edwards syndrome
Normal till 2 years then has deteriorating motor , lang and social skill
Childhood degenerative disorder
Language disorder only in females
Rhett
