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35 Cards in this Set

  • Front
  • Back
what is the problem in potters syndrome
bilateral renal agenesis
-malformation of the ureteric bud
CN a/w:
taste to anterior part
7
CN a/w:
taste to pasterior part
9
CN a/w:
motor
12
CN a/w:
sensation to anterior part
5
CN a/w:
sensation to posterior part
9
what is seen on prenatal ultra sound of a px with down syndrome
nucal translucency
what is affected in fragile X and why
FMR1 gene

methylation is affected and leads to inactivation
what does FMR1 code for and what does it do
FMRP

needed for mRNA translation in axons and dendrites
where is FMRO found
brain and testes
what happens if nondisjunction occurs in meiosis 1
different chromosomes will be joined
what happens if nondisjunction occurs in meiosis 2
same chromosomes will be joined together
what anomolies will show nucal translucency
downs

turners
decreased AFP
decreased estriol
increased B-hCG
downs
decreased B-hCG
decreased AFP
decreased estriol
edwards
a/w micrognathia, clenched hands, prominant occiput
edwards
a/w cleft lip/palate, holoprosencephaly, polydactyly
pataus
what gene is defected in holoprosencephaly
sonic hedgehog
what is the defect in cri du chat
deletion of short arm of chromosome 5
what happens in a robertsonian translocation
long arms of acrocentric chromosomes fuse at the centromere and the 2 short arms are lost
what is the problem in williams syndrome
deletion of long arm of chromosome 7

-includes elastic gene
why does williams syndrome have hypercalcemia
increase sensitivity to vitamin D
what two things can develop from 22q11 deletions
Digorge

velocardiofacial syndorme
translocation in 15:17 will causes what
mutation in retinoic acid
-inhibits myeloblast differentiation causing AML
what determines the severity of mental retardation in kleinfelters
number of X chromosomes
a/w eunichoid body habitus
klienfelters
what is seen in neonate with kelinfelters
nothings

S/S start at puberty
a/w testicular tubule atrophy and replacement with hyalinized tissue
kleinfelters
what happens in the testicles of kleinfelters
dysgenesis of the seminiferous tubules
-decrease inhibin
-increased FSH

leydig cells are hyperplastic and clumped togetehr
-decreased testosterone
-increased LH
-increased estrogen
what causes the gynechomastia in kleinfelters
increased LH increased estrogen
what cancer is a/w klienfelters
breast
what is the cause of turners
loss of parenteral X chromosome during mitosis 1
hormone levels in turners
estrogen is decreased leading to and increased LH and FSH
what is seen in the chromosome of turners
heavily methylated leading to decreased transcription
what happened in a patient with turners that has 46 chromosomes
partial monosomy