Genetic disorders

Question 1

what is phenylketonuria

Answer 1

metabolic disorder, lack enzyme to convert phenylalanine into tyrosine, autosomal recessive.

Question 2

PKU s/s

Answer 2

irritability, vomiting protein feeding, musty body odor, skin rashes, increased reflexes, developmental delays, seizures, brain damage, hyperactivity, microcephaly

Question 3

pku tx

Answer 3

food low in phenylalanine, no meat, added phenylalanine, monitor levels for life, good prognosis.

Question 4

what is fragile X

Answer 4

inherited, genetic, mutation in FMR1 gene. boys affected more severely.

Question 5

fragile x s/s

Answer 5

large head, long face, protruding ears, flat feet, developmental delays, sensoring processing delays, behavioral problems, short attention span, no eye contact

Question 6

fragile X tx

Answer 6

therapies, meds for adhd or behavioral sx, remain free from injury

Question 7

what is Klinefelter syndrome

Answer 7

extra X chromosome, only males

Question 8

klinefelter s/s

Answer 8

tall, reduced muscle tone, weak bones, no body hair, enlarged breasts, infertility, developmental delays

Question 9

klinefelter tx

Answer 9

testosterone replacement, fertility mx, therapies, monitor growth

Question 10

What is turner syndrome

Answer 10

chromosomal, only females, only one copy of X chromosome.

Question 11

turner syndrome s/s

Answer 11

difficult with nonverbal communication, wide neck, broad chest, slowed growth, cardiac defects, short fingers

Question 12

turner tx

Answer 12

growth hormone, estrogen therapy, tx other comorbid conditions like ear infections, hearing loss, heart and kidney problems, autoimmune disorders.

Question 13

what is trisomy 13

Answer 13

patau syndrome, noninherited chromosomal condition, during cell division

Question 14

trisomy 13 s/s

Answer 14

cleft lip, extra digits, clenched hands, close set eyes, hernias, low ears, scalp defect, single palmar crease, limb abnormalities, microcephaly, undescended testicles, cardiac and renal malformations

Question 15

trisomy 13 tx

Answer 15

most die before 1mo, symptomatic care and support for family

Question 16

what is trisomy 18

Answer 16

edwards syndrome, random chromosomal condition leads to 3 copies of chromosome 18.

Question 17

trisomy 18 s/s

Answer 17

intrauterine growth retardation, low birth weight, small head, small jaw, low ears, short eyelid fissures, overlapping digits, prominent occiput, hypotonia, hypoplasia of fingernails, narrow hips, risk for heart disease and rr insufficiency, spina bifida, short sternum, cleft lip

Question 18

trisomy 18 tx

Answer 18

most die in 1yr, symptomatic care and palliative care, can survive if you tx the s/s

Question 19

what is trisomy 21

Answer 19

down syndrome, error in cell division and random event

Question 20

trisomy 21 s/s

Answer 20

cognitive impairment, short and long term memory effects, flat nose bridge, almond shape eyes, cardiac defects, hearing and vision impairments, increased mobility of cervical spine, growth failure, flat back of head, absence of a rib, thin upper lip, protruding tongue

Question 21

trisomy 21 tx

Answer 21

milestones change, therapies, most live 60yrs, supportive care, use long acting contraceptive with females