Genetics

Question 1

What genetic syndrome is XXY?

Answer 1

Klinefelter’s syndrome

Question 2

What is the other word for DiGeorge syndrome?

Answer 2

Velocardiofacial

Question 3

Which genetic condition is known for causing an increased susceptibility to infection and why?

Answer 3

DiGeorge syndrome due to thymus aplasia

Question 4

At what age does deterioration begin in Tay-Sachs disease?

Answer 4

3 and 6 months of age is when the regression begins

Question 5

What is the most common congenital heart defect associated with DiGeorge syndrome?

Answer 5

conotruncal defects such as tetralogy of fallot, pulmonary atresia, VSD, truncus arteriosus, interrupted aortic arch

Question 6

What aspect of DiGeorge syndrome causes seizures in infants?

Answer 6

Hypoparathyroidism with hypocalcemia

Question 7

What evaluation of a child with down syndrome is important prior to the initiation of sports?

Answer 7

Atlanta-axial instability. They need a C spine x-ray prior to starting sports

Question 8

When obtaining a pedigree how many generations are obtained and what information is important?

Answer 8

Three generations looking at miscarriages, stillbirths, and abnormalities

Question 9

What characteristic of Turner syndrome can be seen on ultrasound in utero?

Answer 9

Lymphedema

Question 10

What is an inherited connective tissue disorder affecting skeletal, cardiac, and ophthalmic body systems?

Answer 10

Marfan syndrome

Question 11

What are the typical physical features of someone with Marfan syndrome?

Answer 11

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

Question 12

How does klinefelter’s syndrome sometimes present?

Answer 12

Infertility

Question 13

What are the abnormal faces associated with DiGeorge syndrome?

Answer 13

Lateral displacement of inner can’t thigh, short palpebral fissures, short philtrum, micrignathia, ear anomalies

Question 14

What is the typical progression of tasex disease?

Answer 14

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

Question 15

What are the typical phenotypic findings of Turner syndrome?

Answer 15

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

Question 16

What diseases are commonly associated with down syndrome as they develop?

Answer 16

Congenital heart disease endocrine abnormality such as thyroid, atlanta-axial instability between C1 and C2, hearing and vision impairment, obesity, leukemia, early dementia

Question 17

What are the three systems most frequently affected by Di George syndrome

Answer 17

Thymus, heart, and face

Question 18

What chromosome is affected by the George syndrome?

Answer 18

Chromosome 22

Question 19

What is the most common cause of hypogonadism and infertility in men?

Answer 19

Klinefilters syndrome

Question 20

Tall stature, transverse crease, underdeveloped secondary sexual characteristics, and gynecomastia, learning disability are all common phenotypes of what genetic disorder?

Answer 20

Kleinfelter’s syndrome

Question 21

What are some indications for genetic evaluation?

Answer 21

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

Question 22

What is the karyotype of Turner’s syndrome?

Answer 22

XO

Question 23

What is the genotype of klinefelter’s syndrome?

Answer 23

Xxy

Question 24

What is the most common sex chromosome anomaly of females?

Answer 24

Turner syndrome

Question 25

What genetic syndrome is found amongst the ashkenazic Jewish population?

Answer 25

Tay-Sachs disease

Question 26

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?

Answer 26

Down syndrome, trisomy 21

Question 27

What are the cardiac abnormalities most commonly associated with Turner’s syndrome?

Answer 27

By cuspid aortic valve and coarctation of the aorta

Question 28

What percentage of embryos with Turner syndrome survived term?

Answer 28

5%

Question 29

What are the three cardiovascular abnormalities associated with marfan syndrome?

Answer 29

Aortic regurgitation, mitral valve prolapse, aortic aneurysm

Question 30

What are brush field spots?

Answer 30

Iris of the eye has Starbursts with dots at the end commonly seen in down syndrome

Question 31

What is the goal phenylalanine level in PKU?

Answer 31

2 to 6 mg per deciliter

Question 32

What does the an acronym SCREEN stand for?

Answer 32

Some concerns, reproductive problems, early disease or death, ethnicity, non-genetic risk factors

Question 33

What is the rule of two / two?

Answer 33

Too short, too early, too tall or two cancers and two generations

Question 34

What does the acronym VACTERL stand for?

Answer 34

Vertebral, anal anomalies, cardiac, tracheoesophageal fistula, radial / renal anomalies, limb anomalies

Question 35

What did you just disease is associated with failure to thrive, short stature, hypotonia as infant, scoliosis, hyperphasia, tantrums, ADHD, and intellectual disability?

Answer 35

Prader-Willi

Question 36

What did genetic syndrome is associated with on fallacy, macroglossia, helical pits, leg length discrepancies, cardiac / renewal anomalies?

Answer 36

Beckwith wiedeman