genetics

Question 1

what is trisomy 18

Answer 1

autosomal recessive chromosomal disorder with karyotype 47 xx or xy trisomy chromosome 18. assc with severe mental retardation and other congenital defects . less than 5% survive past 1 year

Question 2

edwards syndrome symptoms

Answer 2

growth retardation
low set ears w prominent occiput and micrognathia
rocker bottom feet and overlapping fingers
severe global dev delays

Question 3

trisomy 13

Answer 3

severe ftt with gorwth retardation. microcephaly, low set ears, proiminent occiput, micrognathia. clenched hands with over riding fingers and crossed thumb

Question 4

severe ftt with gorwth retardation. microcephaly, low set ears, proiminent occiput, micrognathia. clenched hands with over riding fingers and crossed thumb

Answer 4

trisomy 13

Question 5

treatment for genetic issues

Answer 5

Refer to genetics for counseling
Psychosocial support to parents and fam
Refer to cardio
Support nutritional needs
Prophylatic antibiotics if heart issues
Enroll in early intervention

Question 6

complications often seen with down syndrome kids

Answer 6

hearing loss
otitis media
obstructive sleep apnea
vsd and endocardial cushion defects
hypothyroidism
Celiac disease
Cataracts
Brushfield spots
At risk for leukemia

Question 7

alanto axial instabilitiy

Answer 7

neck pain, decreased rom, gait disturbance, bladder issues, hyperreflexia–seen in kids w down syndrome

Question 8

eye exams for down kids

Answer 8

every 2 years between 3-5 then yearly after

Question 9

what annual tests for downs

Answer 9

tsh, hearing, hgb

Question 10

parent edu for down’s kids

Answer 10

theyre at inc risk for infection and should avoid contact sports

Question 11

fragile x signs and symptoms

Answer 11

strabismus, long narrow face w prominent jaw and malocculsion, prominent ears, chronic otitis media, macro orhidism

Question 12

strabismus, long narrow face w prominent jaw and malocculsion, prominent ears, chronic otitis media, macro orhidism, soft skin, pes planus, scoliosis

Answer 12

fragile x

Question 13

bx symptoms of fragile x

Answer 13

poor eye contact w excessive shyness and anxiety w hand flapping
tacticle defensives
adhd w hyperarousal to stimuli

Question 14

girl w nuchal folds (webbed neck), low hairline and high arched palate, low set ears, elevation of fsh

Answer 14

turner’s syndrome

Question 15

turner’s syndrome symptoms

Answer 15

girl w nuchal folds (webbed neck), low hairline and high arched palate, low set ears, elevation of fsh, cubitus valgus, wide spaced nipples

Question 16

lab diagnosis of fragile x

Answer 16

dna analysis from whole blood

Question 17

lab dx of turner’s

Answer 17

karyotype

Question 18

lab dx of down’s

Answer 18

karyotype

Question 19

heart issues seen in turners

Answer 19

coarctation of aorta

bicuspid aortic valve

Question 20

management of turners

Answer 20

refer to endo
t4 and tsh annually after age 4
pelvic ultra sound
genetic counseling
plasma gonadotropin
refer to cardiology

Question 21

most common sex chromosome disorder in males

Answer 21

klinefelters

Question 22

features of klinefelters

Answer 22

small testicles w infertility, inc gonadotropin levels, gynecomastia, tall, sparse facial and pubic hair, cleft palate

Question 23

heart issues assc with klinefelters

Answer 23

mitral valve prolapse

Question 24

bx of klinefelter kids

Answer 24

shy, immature, anxious, aggressive, antisocial

Question 25

lab confirmation of klinefelter

Answer 25

chromosome analysis

Question 26

management of klinefelters

Answer 26

early intervention, therapy for bx issues , psychosocial support, refer to endocrine for testosterone therapy at age 11-12

Question 27

tay sachs signs and symptoms

Answer 27

normal dev til age 3-6 months then progessive deteoration

Question 28

earliest sign of tay sachs

Answer 28

irritability and increased reaction to sound w emerging spasticity

Question 29

tx for tay sachs

Answer 29

no known tx for metabolic def, genetic counseling, psychosocial support, refer to pain management and palliative care.

Question 30

at risk groups for tay sachs

Answer 30

ashkenazi jews, french canadian, irish americans

Question 31

where do you need to refer a patient with marfans

Answer 31

optho