Genetic Disorders

Question 1

angelman syndrome genes?

Answer 1

UBE3A, on chrom. 15

Question 2

angelman characteristics

Answer 2

flat head, jerky movements, odd bouts of laughter, protruding tongues, feeding and sleeping and movement/balance probs

Question 3

when is angelman’s usually discovered?

Answer 3

1 year, may appear normal at birth

Question 4

Cri du chat chromosome

Answer 4

5

Question 5

cri du chat characteristics

Answer 5

cat like cry
webbed fingers/toes
downward slanted eyes
low set ears
small head/jaw
mental retardation

Question 6

downs syndrome chromosome?

Answer 6

they have a 3rd 21st chromosome

Question 7

dx?

single deep crease accross palm, wide space tween great and second toes, hypotonia, upward slanted eyes?

Answer 7

downs syndrome

Question 8

fragile x chromosome?

Answer 8

mutation on X chromosome

Question 9

dx? large head, prominent forehead, high palate but flat feet, tactile defensiveness, large testicles and long faces?

Answer 9

fragile x

Question 10

rubbery, purplish moles and cafe-au-lait birthmarks are associated with what dx?

Answer 10

neurofibromatosis or Von Recklinghausen Disease-

Question 11

freckles in the armpits and groin and bony abnormalities are associated with what diagnosis?

Answer 11

neurofibromatosis or VonRecklinghausen disease

Question 12

Prader willi chromosome?

Answer 12

15

Question 13

what dx is associated with mental retardation, speech problems, short stature and failure to thrive as an infant followed by insatiable hunger and morbid obesity in adolescents?

Answer 13

Prader Willi syndrome

Question 14

Smith Magenis chromosome

Answer 14

17

Question 15

what diagnosis is hallmarked by a short wide head (brachycephaly), prominent forehead, broad nasal bridge, protruding jaw (prognathism) and ear anomalies. These babies have feeding problems, middle ear problems, sudden mood changes, hyperactivity, arm hugging/hand squeezing tendencies, chronic sleep disturbances, skeletal abnormalities, are hypotonic, developmentally delayed and have possible mental retardation?

Answer 15

smith-magenis syndrome

Question 16

men u have an extra x chromosome have what?

Answer 16

Klinefelter’s syndrome

Question 17

girls with webbed necks, underdeveloped breasts, short stature and no menstruation have what?

Answer 17

turner’s syndrome

Question 18

chromosomal anomaly with turner’s syndrome?

Answer 18

only one X

Question 19

females who are taller than average, developmentally delayed, have behavior problems or learning disabilities may have what?

Answer 19

trisomy x or triple X syndrome

Question 20

missing genetic information from chromosome 7 is associated with what diagnosis?

Answer 20

Williams syndrome

Question 21

what diagnosis is characterized by mild to moderate mental retardation, puffiness around eyes, wide mouth, full cheeks and lips, small chin, long neck, sloping shoulders, scoliosis, short stature, limited joint mobility and elevated calcium levels in infancy?

Answer 21

Williams syndrome

Question 22

what diagnosis is characterized by salty tasting skin (gross), dehydration, infertility, huge appetite but poor weight gain, stomach/GI pain, ongoing diarrhea with bulky, foul smelling, greasy stools, frequent coughing and frequent bouts of bronchitis and pneumonia leading to inflammation and permanent lung damage?

Answer 22

cystic fibrosis

Question 23

what chromosome and gene are responsible for CF?

Answer 23

chromosome 7- CFTR gene, cystic fibrosis transmembrane conductance regulator gene… (no wonder they call it CFTR)

Question 24

name the 4 common types of muscular dystrophy?

Answer 24

• Duchenne’s- absence of dystrophin
• facioscapulohumeral- dysfunctional dystrophin
• Limb-Girdle
• Myotonic

Question 25

MD is hallmarked by what sign?

Answer 25

Gower’s Sign- uses hands on knees to return to standing upright after bending over

Question 26

physical symptoms of MD?

Answer 26

sway back, weak thighs, tight heel chords, weak and protruding core