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1 Peds > Genetic disorders > Flashcards

Genetic disorders Flashcards

1
Q

chromosomal disorder

A

abnormal number - aneuplodiy (trisomy, monsomy)

abnormal structure - translocation, inversion, ring chromosome, deletions

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2
Q

Autosomal dominant

A

one, non-sex chromosome
only one gene mutated
vertical transmission (generational)
ex: Huntington dz, neruofibromatosis

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3
Q

Autosomal rescessive

A

two genes of non-sex chromosome mutated
horizontal transmission (siblings)
ex: CF, sickle cell

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4
Q

X-linked dominate

A

gene on X chromosome
lethal in males
no father - son transmission
ex: Rett syndrome

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5
Q

X-linked recessive

A

gene on X chromosome
males mostly, female carrier
Ex: Turner - female
Ex: Hemophila, Duchenne MD - male

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6
Q

Imprinting

A

regulates expression of derived genetic materal -

exclusive expression of maternal gene -> paternal gene is imprinted (silenced)

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7
Q

Mitochondria

A

inherited maternally via egg

organelles of energy - disorders involve multiple organ systems

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8
Q

Multifactorial

A

interaction btw genetic/environmental issues
Most common form of birth defects
Ex: cleft lip, asthma, congenital heart disease, DM, club foot, spina bifida

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9
Q

Fragile X - Eti

A

x-linked

common cognitive disabilty in males d/t repeat CGG in FMR1 gene

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10
Q

Fragile X - Sx

A

intellectual disabilities, oblong face, large ears, high voice, large tesicles post puberty
autistic-like behavior

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11
Q

Fragile X - Comp.

A

recurrent infxn, seizure, autism disorders

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12
Q

Fragile X - Prog

A

intellectual disability dependant - Valproic acid help with ADD

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13
Q

Klinefelter - Eti

A

XXY - boys with extra X

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14
Q

Klinefelter- Sx

A

hypogonadotropic hypogonadism, small testes, microorchidism, lack libido/potency, minimal facial hair, tall/eunuchoid build (reduced/indeterminate sexual characteristics)
varible IQ - progressive disabilites, Dx made post puberty

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15
Q

Klinefelter - Comp

A

intellectual disabilities, infertility

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16
Q

Klinefelter - Prog

A

full active lives - manage w/ testosterone therapy

17
Q

Down Syndrome - Trisomy 21 - Eti

A

3 copies of chromosome 21
@risk with increased maternal age, dx in 1st or 2nd trimester w/ nuchal thickening, underdeveloped nasal bone, screen w/ alpha-fetoprotein

18
Q

Down Syndrome - Sx

A

hypotonia, poor Moro reflex, hypermobility of joints, flattend facies/occiput, excessive skin on neck, anomalous auricles, upwar-slanting palpebral fissures, pelvic dysplasia, dysplasia of middle phalanx of fifth finger, single transverse palmar crease

19
Q

Down Syndrome - Comp

A

congential heart disease - atrioventrical septal defects

20
Q

Down Syndrome - Prog

A

a-okay - live, work and play just like the rest of us with some extra health concerns

21
Q

Trisomy 18 - Eti

A

male:femal 1:3

22
Q

Trisomy 18 - Sx

A

small for gestational age, low birth weight, dysmorphic facies and extremities - overlapping finders, rocker bottom feet

23
Q

Trisomy 18 - Comp

A

heart disease - VSD pr patent ductus arteriosus, congnitive disabilities

24
Q

Trisomy 18 - Prog

A

death d/t heart failure or PNA early in life

25
Q

Turner - Eti

A

female - lack chromosome 45 or XO

26
Q

Turner - Sx

A

webbed neck, triangular facies, short staturs, wide-set nipples, amenorrhea, absence 2nd sex characteristics, visual/hearing/spatial impairment, coarctation of aorta

27
Q

Turner - Comp

A

coarctation of aorta

learning disabilites, perceptual motor deficets

28
Q

Turner - Prog

A

estrogen replacement, live productive lives

29
Q

Trisomy 13 - Eti

A

more common femal

95% fetuses miscarried

30
Q

Trisomy 13 - Sx

A

CNS malformation, eye malformation, cleft lip/palate, polydactyl, congential heart disease

31
Q

Trisomy 13 - Comp

A

failure to thrive, cognitive disabilites, apneic spells, seizures, deafness

32
Q

Trisomy 13 - Prog

A

Poor prognosis - early dealth w/in 2 yo d/t heart failure or infxn

1 Peds (16 decks)

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