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35 Cards in this Set
- Front
- Back
what is the problem in potters syndrome
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bilateral renal agenesis
-malformation of the ureteric bud |
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CN a/w:
taste to anterior part |
7
|
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CN a/w:
taste to pasterior part |
9
|
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CN a/w:
motor |
12
|
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CN a/w:
sensation to anterior part |
5
|
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CN a/w:
sensation to posterior part |
9
|
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what is seen on prenatal ultra sound of a px with down syndrome
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nucal translucency
|
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what is affected in fragile X and why
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FMR1 gene
methylation is affected and leads to inactivation |
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what does FMR1 code for and what does it do
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FMRP
needed for mRNA translation in axons and dendrites |
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where is FMRO found
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brain and testes
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what happens if nondisjunction occurs in meiosis 1
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different chromosomes will be joined
|
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what happens if nondisjunction occurs in meiosis 2
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same chromosomes will be joined together
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what anomolies will show nucal translucency
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downs
turners |
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decreased AFP
decreased estriol increased B-hCG |
downs
|
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decreased B-hCG
decreased AFP decreased estriol |
edwards
|
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a/w micrognathia, clenched hands, prominant occiput
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edwards
|
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a/w cleft lip/palate, holoprosencephaly, polydactyly
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pataus
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what gene is defected in holoprosencephaly
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sonic hedgehog
|
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what is the defect in cri du chat
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deletion of short arm of chromosome 5
|
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what happens in a robertsonian translocation
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long arms of acrocentric chromosomes fuse at the centromere and the 2 short arms are lost
|
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what is the problem in williams syndrome
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deletion of long arm of chromosome 7
-includes elastic gene |
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why does williams syndrome have hypercalcemia
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increase sensitivity to vitamin D
|
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what two things can develop from 22q11 deletions
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Digorge
velocardiofacial syndorme |
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translocation in 15:17 will causes what
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mutation in retinoic acid
-inhibits myeloblast differentiation causing AML |
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what determines the severity of mental retardation in kleinfelters
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number of X chromosomes
|
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a/w eunichoid body habitus
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klienfelters
|
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what is seen in neonate with kelinfelters
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nothings
S/S start at puberty |
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a/w testicular tubule atrophy and replacement with hyalinized tissue
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kleinfelters
|
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what happens in the testicles of kleinfelters
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dysgenesis of the seminiferous tubules
-decrease inhibin -increased FSH leydig cells are hyperplastic and clumped togetehr -decreased testosterone -increased LH -increased estrogen |
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what causes the gynechomastia in kleinfelters
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increased LH increased estrogen
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what cancer is a/w klienfelters
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breast
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what is the cause of turners
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loss of parenteral X chromosome during mitosis 1
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hormone levels in turners
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estrogen is decreased leading to and increased LH and FSH
|
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what is seen in the chromosome of turners
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heavily methylated leading to decreased transcription
|
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what happened in a patient with turners that has 46 chromosomes
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partial monosomy
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