Genetics Flashcards
What genetic syndrome is XXY?
Klinefelter’s syndrome
What is the other word for DiGeorge syndrome?
Velocardiofacial
Which genetic condition is known for causing an increased susceptibility to infection and why?
DiGeorge syndrome due to thymus aplasia
At what age does deterioration begin in Tay-Sachs disease?
3 and 6 months of age is when the regression begins
What is the most common congenital heart defect associated with DiGeorge syndrome?
conotruncal defects such as tetralogy of fallot, pulmonary atresia, VSD, truncus arteriosus, interrupted aortic arch
What aspect of DiGeorge syndrome causes seizures in infants?
Hypoparathyroidism with hypocalcemia
What evaluation of a child with down syndrome is important prior to the initiation of sports?
Atlanta-axial instability. They need a C spine x-ray prior to starting sports
When obtaining a pedigree how many generations are obtained and what information is important?
Three generations looking at miscarriages, stillbirths, and abnormalities
What characteristic of Turner syndrome can be seen on ultrasound in utero?
Lymphedema
What is an inherited connective tissue disorder affecting skeletal, cardiac, and ophthalmic body systems?
Marfan syndrome
What are the typical physical features of someone with Marfan syndrome?
Tall statur e, arm span exceeds height, thin extremities and fingers, pectus carinatum or excavator, hyperextension of joints, kyphoscoliosis, and eye abnormalities such as ectopia lentils and iridonesis
How does klinefelter’s syndrome sometimes present?
Infertility
What are the abnormal faces associated with DiGeorge syndrome?
Lateral displacement of inner can’t thigh, short palpebral fissures, short philtrum, micrignathia, ear anomalies
What is the typical progression of tasex disease?
Decreased muscle tone followed by a cherry red macula, then listlessness, blindness and deafness, seizures, dementia, vegetative state, and death at the age of a toddler
What are the typical phenotypic findings of Turner syndrome?
webbed neck, low hairline, learning disabilities, lack of secondary sexual characteristics, shield-shaped chest with widely spaced nipples, hypertension, bicuspid aortic valve and coordination of the aorta
What diseases are commonly associated with down syndrome as they develop?
Congenital heart disease endocrine abnormality such as thyroid, atlanta-axial instability between C1 and C2, hearing and vision impairment, obesity, leukemia, early dementia
What are the three systems most frequently affected by Di George syndrome
Thymus, heart, and face
What chromosome is affected by the George syndrome?
Chromosome 22
What is the most common cause of hypogonadism and infertility in men?
Klinefilters syndrome
Tall stature, transverse crease, underdeveloped secondary sexual characteristics, and gynecomastia, learning disability are all common phenotypes of what genetic disorder?
Kleinfelter’s syndrome
What are some indications for genetic evaluation?
Advanced parental age male or female which is greater than 35 years at day of birth Also family history of birth defects, mental retardation, growth retardation, neurologic conditions or fetal exposure to medications, infections, radiation, toxic chemicals
What is the karyotype of Turner’s syndrome?
XO
What is the genotype of klinefelter’s syndrome?
Xxy
What is the most common sex chromosome anomaly of females?
Turner syndrome
What genetic syndrome is found amongst the ashkenazic Jewish population?
Tay-Sachs disease
Microcephaly, flattened nose, wide eyes, protruding tongue, inner epicanthal folds, upward slanting eyes, short broad hands/fingers, single palmar crease, hypotonia, and brush field spots are all signs of what?
Down syndrome, trisomy 21
What are the cardiac abnormalities most commonly associated with Turner’s syndrome?
By cuspid aortic valve and coarctation of the aorta
What percentage of embryos with Turner syndrome survived term?
5%
What are the three cardiovascular abnormalities associated with marfan syndrome?
Aortic regurgitation, mitral valve prolapse, aortic aneurysm
What are brush field spots?
Iris of the eye has Starbursts with dots at the end commonly seen in down syndrome
What is the goal phenylalanine level in PKU?
2 to 6 mg per deciliter
What does the an acronym SCREEN stand for?
Some concerns, reproductive problems, early disease or death, ethnicity, non-genetic risk factors
What is the rule of two / two?
Too short, too early, too tall or two cancers and two generations
What does the acronym VACTERL stand for?
Vertebral, anal anomalies, cardiac, tracheoesophageal fistula, radial / renal anomalies, limb anomalies
What did you just disease is associated with failure to thrive, short stature, hypotonia as infant, scoliosis, hyperphasia, tantrums, ADHD, and intellectual disability?
Prader-Willi
What did genetic syndrome is associated with on fallacy, macroglossia, helical pits, leg length discrepancies, cardiac / renewal anomalies?
Beckwith wiedeman
