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Path Genetic Disease
KYCOM Block 10
163
Pathology
Graduate
09/19/2013

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Term
what are the three types of mendelian disorders
Definition
autosomal dominant
autosomal recessive
sex-linked disorders
Term
what are the 4 autosomal dominant disorders
Definition
marfans, loeys dietz, ehler's danlos, familial hypercholesteroemia
Term
what are the 5 autosomal recessive disorders
Definition
PKU, galactosemia, lysosomal storage diseases, glycogen storge diseases, alkaptonuria
Term
what are the 4 lysosomal storage diseases and their subdiseases
Definition
G2 gangliosidoses - tay sacs
neiman pick - A, B, C
gaucher's disease - 1-3
mucopolysaccridoses - hurler, hunter
Term
what are the 2 glycogen storage disease
Definition
pompe, brancher
Term
what are two ways to get an autosomal dominant disorder
Definition
spontaneous mutation (usually in gametogenesis)
at least one affected parent
Term
why might someone get an autosomal dominant disorder and their parents didnt have it (2)
Definition
they had a spontaneous mutation or reduced penetenerance in their parent
Term
why does a certian disorder or mutation become autosomal dominant (2)
Definition
issue with receptor or scaffolding protein, metabolic pathway regulators
non-enzyme
example: if some collagen is junk but some is fine when they get put in mesh it sucks even if one parent donated good collagen
Term
what is the cause of autosomal recessive diseases
Definition
genes coding metabolic pathway participants (enzymes) are mutated
Term
what are some common patterns in autosomal recessive riseases
Definition
skipps generations
complete penetrance is common and onset is usually earlier in life
inscest sometimes seen
Term
why do enzymes mutations cause recessive disorders
Definition
can still meet demant (upregulating or down regulating) with the good enzymes from one parent
Term
are sex linked disorders recessive or dominant
Definition
recessive. the dominant ones are so rare we dont study them
Term
what are the y-linked disorders
Definition
none. hairy ears
Term
how can x-linked disorders be identified on a pedigree
Definition
mother is a carrier, son is affected
affected father doesnt have affected son
Term
why would a female get symptoms in a x-linked disorder
Definition
lionization (silencing of one X)
Term
what is the mutation in marfans syndrome, how does this cause disease
Definition
fibrillin-1 (FBN1) mutation of connective tissue

microfibrils in ECM are made of tropoelastin and fibrillin making elastic fibers that are now weak

fibrillin usually sequesters TGF-B and keeps it inactive so now it is running around in the active form
Term
where are the elastic fibers tmost effected in marfans syndrome (3)
Definition
aorta, ligaments, ciliary zonules of the lens
Term
how is marfans acquired, what is the prevlence
Definition
dominant 75%
spontaneous mutation 25%
Term
what does TGF-B usually do
Definition
released by proteases in injury to activate fibroblasts and cause re-epithelization
Term
what causes loey;s dietz
Definition
constitutive activation of TGF-B receptor
Term
why does everyone with marfans present a little differetly
Definition
there are over 500 types of FBN1 mutations
Term
what systems have the most symptoms of marfans
Definition
skeletal, eye, cardiovascular
Term
what are the 5 general skeletal deformities of marfans
Definition
arachnodactyly
hyperextensibility of joints
spinal deformities
chest deformities
high arched palate with crowded teeth
Term
what is arachnodactyly, what disease is it seen in
Definition
marfans
elongated body shape with abnormally long legs, rms, fingers
Term
what spinal deformities do people with marfans have (3)
Definition
kyphosis, scoliosis, rotation or slipping of vertebrae
Term
what 2 chest deformities can people with marfans hae
Definition
pectus excavatum
pigeon breast deformity
Term
what symptoms occur in the eye of people with marfans
Definition
bilateral dislocation or subluxation of the lens (ectopia lentis): in one eye it is ok but in both suspect marfans
Term
cardiovascular symptoms of margas (3)
Definition
mitral valve prolapse causes congestive cardiac failure

dilation of the ascending aorti causes aortic incompentence an aortic dissecetion (common cause of death)
Term
what is the cause of eher's danlos syndrome
Definition
they all have different causes leading to different symptoms
basically a disorder of the connective tissue that is due to a mutation affecting collagen synthesis or structure

not all are dominant either
Term
what are the common symptoms of elher danlos syndromes
Definition
skin, ligaments, and joints are hyperextensible and vulernable to trama and hypermobile and predisposed to dislocation
Term
explain normal LDL metabolism (long story)
Definition
hapatocyte pumps out cholesterol complexed with TG or APO protein and this is called a VLDL

once it gets to the blood and muscle. muscle removes TG and uses it leaving IDL in the blood.

50% of IDL is recycled back to the liver via LDL binding receptors
the ret is converted to LDL

75% of the LDL goes back to the liver via LDL receptors
25% of LDL is taken into macrophages and smooth muscle cells causing athlerosclerosis
Term
explain the life cycle of a LDL receptor (5)
Definition
made in the ER
shuttled to the golgi
transported to the membrane
phagocytose cholesterol through interaction with its substrate
recycled back to the cell then to the membrane again
Term
what causes familial hypercholesterolemia, how does this cause disease (3)
Definition
mutation of LDL receptor

it increases HMG CoA reductase - liver cell sees no cholesterol coming in because its LDL receptor is broken, it increases HMC CoA reductase to put more cholesterol into the blood because it thinks its too low

IDL isnt getting recycled so it is all shunted to LDL increasing athlerosclerosis

scaverenger receptors pick up the LDL causing more athlerosclerosis
Term
what are some signs of familial hypercholesteroemia (4)
Definition
elevated cholesterol
premature athlerosclerosis
increased risk of infection
xanthomas
infarctions
Term
what determines the severity of familial hypercholestermia
Definition
if they have two alleles it is bad
Term
how can you tell it if someone is a heterozygote familial hypercholesterolemia (4)
Definition
2-3x cholesterol elevation
asymptomatic until adult then develop xanthomas along tendon sheaths, premature athlerosclerosis
Term
how can you tell it if someone is a homozygote familial hypercholesterolemia (3)
Definition
5x cholesterol elevation
cutaneous xanthomas by childhood
infarctions by 15 yo
Term
what is the most common mutation in familial hypercholesterolemia
Definition
type II: problem with transport of receptor to the cell surface. receptor is functional but it cant get to the cell surface
Term
what is the significance of pku in the medical community, who is it more common in
Definition
first newborn screen available
most common in scandinavian dsecent
Term
what causes pku
Definition
lack of phenylalanine hydroxylase so you get hyperphenylalaninemia and PKU. phanalanine cannot be converted to tyrosine so phenylalanine and its metabolites build up
Term
what are the symptoms of PKU
Definition
mental retardation, impairment of motor or verbal skills, seizures, decreased pigmentation of hair and skin, eczema, mousy odor or urine
Term
why do people with pku get mental redardation and mousy odor
Definition
accumulation of phenylalanine and its metabolites are neurotoxins
Term
why do people with pku get decreased pigmentation
Definition
pneylalanine is turned into tyrosine by phenalaine hydroxylase and tyrosine is turned into melanin.
no phenalanine no melanin
Term
what are the other types of PKU, how are they different
Definition
non-pku hyperphenylalaninemia- distinguished from PKU with serum levels of phenylalanine

type II and III dont involve phenalanine hydroxylase but other parts in the pathway. these dont cause neurological symptoms or cause redardation.

will still test posutuve for pku but dont develop the disease. restrictive diet wont helpt for I and III
Term
what is the treatment of pku
Definition
dietary restriciton of phenylalanine
Term
what happens if an adult or child with pku eats phenylalanine
Definition
kids with get mental retardation
adults with get depression and other psych symptoms
they both will get the rest of the symptoms
Term
what is maternal pku
Definition
mother with pku dosent follow their diet and their baby gets pku symptoms due to phenylalanine build up even though the baby dosent have the disease
Term
what is the cause of galactosemia
Definition
galactose-1-phosphate uridyl transferase (GALT) mutation causes galactose-1-phosphate (galactatol) to build up
Term
what are the 6 areas of damage of susceptability in galactosemia
Definition
failure to thrive (vomiting and diarrhea)
hepatomeagly
cataracts
CNS alterations
aminoaciduria
increased frequency of fulminant E. coli septicemia
Term
galactosemia treatment
Definition
early removal of galactose from diet for first 2 years of life
Term
how is galactosemia diagnosed (2)
Definition
transferase assy of leukocytes, erythrocytes

antenatal enzyme assays from cultured amniocytes or chronic vili
Term
what causes hepatomeagly in kids with galactosemia (2), when does it occur
Definition
liver enlargement due to fatty change causes cirrhosis
jaundice
devlops in 1st week of life
Term
what causes cataracts in kids with galactosemia, when does it occur
Definition
galactitol in lens increases toxicity
develops in 1st few weeks of life
Term
what are the CNS signs in galactosemia (4), when do they occur
Definition
loss of nerve cells, gliosis, edema, mental retardation (within 6-12 mo)
Term
what is aminoaciduria
Definition
impaired amino acid transport in kidneys
Term
why do kids with galactosemia have increased susceptability to E. coli
Definition
depressed neutrophil bactericidal activity
Term
what is the cause of lysosomal storage diseases
Definition
inherited lack of lysosomal enzyme leads to accumulation of substrate in the lysosome
Term
GM2 gangliosidosis: cause, what disease
Definition
accumulation of GM2 gangliosides
Tay sac's disease - problem with hexosaminidase A that forms active enzyme complex that breaks down GM2 gangliosides
Term
where are most GM2 gangliosides
Definition
neurons
Term
who gets tay-sachs
Definition
commonly ashkenazi jews (eastern european descent)
Term
what are three findings in tay sacs
Definition
foamy ytoplasmic vacoules in neurons
myelin figures
cherry red spot
Term
why do people with tay sacs have foamy cytoplasm in neurons, how can you identify this
Definition
neurons are balooned with gangliocides, stain positive for fat (oil red stain)
Term
how do myelin figures look, how can you see them
Definition
concentric whorls, like onion skin
visible by EM
Term
what causes the cherry red spot in tay sacs
Definition
palw swollen ganglion cells accumulating in the margins of the macula
Term
when does tay sachs show up, what are three signs, what is the outcome
Definition
normal until 6 mo
motor and mental retardation, blindness, dementia
vegetative state and death by 2-3 yo
Term
niemann pick disease cause, who gets it
Definition
accuulation of sphingomyelin or cholesterol in phagocytic cells and neurons
seen in ashenazi jews (not type C though)
Term
neimann pick type A: aka, cause
Definition
severe infantile

mutation in sphingomyelinase causes accumulation of sphingomyelin in phagocytic cells
Term
neimann pick type A: morphology (6)
Definition
seen in neurons and PHAGOCYTIC CELLS

foamy fat in cytoplasm, myelin figures, SPLENOMEAGLY, hepatomeagly, protruberant abdomen, cherry red spot
Term
where do the cells accumulate in type A neimann pick (5)
Definition
nodes, marrow, tonsils, lungs, neurons
Term
neimann pick type A: appears when, cause of death (3) and when
Definition
normal until 6 mo, failure to thriba due to vomiting, fever, lymphadenopathy
die by age 1-2
Term
what is the difference between type A and B neimann pick (3)
Definition
type B has less severe deficiency in sphingomyelinase
type B has no CNS involvement
usually live until adult
Term
what is the problem in type C neimann pick
Definition
NPC gene encodes proteins in cholesterol tracking and is mutated
cells accumulate choleserol and GM1 and GM2 gangliosides
Term
what are the symptoms of type C neimann pick (9)
Definition
fetalis, stillbirth, neonatal hepatitis, chronic progressive neurological damage, ataxia, supranuclear palsy, dystonia, dysarthia, psychomotor regression
Term
gaucher's disease: cause
Definition
mutation in glucocerebrosidase gene causing accumulation of glucocerebroside in phagocytes causing them to activate and release cytokines (IL-2, 6, TNF)
Term
what is a gaucher cell, what does it look like
Definition
phagocyte containing distended lysosomes filled with lipid (wrinkled tissue cytoplasm)
pathoneumonic
Term
what is the most common lysosomal storage disease, what are the three types which is the most common
Definition
gaucher's disease
chronic non-neuropathic form - most common
types I-III
Term
signs of type I gaucher's disease (4)
Definition
hepatosplenomeagly, skeletal lesions (wide ephysis), NO BRAIN INVOLVED
decrease in life expetency
Term
why does type I gaucher;s get skeletal lesions
Definition
macrophages are sruffed with cholesterl and gangliosides and accumulate
Term
who gets type I gaucher;s
Definition
ashkenazi jews
Term
when do people realize they have gaucher's - why
Definition
60-70s they develop anemia
Term
what causes type II gauchers, when does it start, what is the prognosis, who gets it
Definition
no neuro signs or symptoms, symptoms start before 2 yo, early death, no jewish connection
Term
type III guachers: severity in comparison, symptoms, onset
Definition
intermediate to I and II
CNS symptoms begin in teens and 20s
Term
what is the difference in the MOA of type I between II and III gauchers
Definition
II and iii dont store glucosyleramide in neurons
accumulations in vessels becomes toxic to neuronal tissue
Term
what causes mucopolysaccharidosis, what organs does it involve (4)
Definition
defective degredation of mucopolysaccharides

many organs including; liver, spleen, heart, vessels
Term
what causes the pathology in mucopolysaccharidosis (2)
Definition
accumulations in phagocytes, endothelial cells, smooth muscle cells, and fibroblasts cause baloon cells

lysosomes in neurons may contain myelin figures
Term
what are the common symptoms of the mucopolysaccharidosis (6)
Definition
hepaosplenomeagly ****
skeletal deformities - coarse facial features
valvular lesions
subendothelial deposits in coronary arteries, vessels and brain
corneal clouding
mental retardation
Term
what causes glycogen storage diseases, what areas of the body do these most effect and why
Definition
mtation in enzymes involved in synthesis or degradation of glycogen

liver and skeletal muscle have the most glycogen
Term
what are the three types of glycogen storage diseases
Definition
hepatic, mypoathic, other
Term
what causes hepatic glycogen storage diseases, name of disease, 2 symptoms
Definition
von kerke (type I glycogenosis)

deficiency of liver glycogen and metabolism enzymes (glucose 6 phosphatase)

hepatic enlargement, hypoglycemia
Term
mypoathic glycogen storage disease: cause, 3 signs and why, name of disease, deficient enzyme
Definition
McArdle disease (type V glycogenosis)

phosphorlyase enzyme in glycolysis is broken

muscle weakness: impaired energy
muscle cramps after exercuse
no increas in lactate after exercise
Term
what 2 glycogen storage diseases cause early death
Definition
pompe disease (type II glygogenosis)
brancher glycogenosis (type IV glycogenosis)
Term
pompe disease: cause and a symptom
Definition
lack of lysosomal acid maltase leads to storae of glocogen in lysosome, cardiomeagly
Term
brancher glycogenosis: cause, 3 symptoms
Definition
deficiency of branching enzyme for glycogen

abnormal form of glycogen damages heart, liver, and muscle
Term
alkaprotonuria: claim to fame, cause
Definition
first human inborn error of metabolism to be discovered

lack of homogentisate 1,2-dioxygenase 9HGO_ blocks metabolism of phenylalanine-tyrosine at level of hypogentistic acid (HA)
Term
alkaprotonuria signs (5)
Definition
hypogenistic acid (HA) accumulates in urine and oxidizes to bensoquinones turning black

onchronosis: causes blue black pigment in connective tissues (ears, nose, cheeks, sclera)

deteroiration of cardiac valces (coronary artery calcification)

kidney stones due to HA build up

degenerative arthopathy similar to osteoarthritis appears in 30s
Term
what is the normal purpose of a trinucleotide repeat
Definition
CG rich region due to how nucleotides base pair abnormally (g-g). this stops DNA polymerase and in repair process youo get repeats and expansion
Term
where are trinucleotide repeats located in the genome (3)
Definition
intron, extron, untranslated regions
Term
how can you identify a nucleotide repeat region, what symptom are most repeats associated with
Definition
CG rich, neurodegenerative changes
Term
what region is a huntington disease repeat in, when does it happen
Definition
exon reagon dueing spermatogeneis
Term
what region is a fragile-x repeat in, when does it occur
Definition
untranslated region during oogenesis
Term
fragile x syndrome: inheritance, cause
Definition
x-linked recessive
FRM1 normal trinucleotide repeat is expanded and AMPLIFIED over generations during oogenesis until one generation is long enough to cause the disease
Term
what repeat is involved in fragile x, where is it
Definition
CGG repeats in the 5'UTR region
Term
what does it mean if someone has pre-mutated fragile x syndrome, what are some symptoms
Definition
someone has a lot of repeats but not enough to cause full fragile X syndrome. these people have 30% chance of ovarian failure or 33% chance of intention tremor, cerebellar ataxia, and parkinsonism in men
Term
who many repeats does someone need to have a pre-mutation and how many to have fragile-x syndrome
Definition
52-200 for premutation
200-4000 for fragile x
Term
what causes the pathology in fragile x syndrome
Definition
expansion areas are hypermethylated which spreads to the promoter and silences the region from transcription. so although the protein would be normal, it is not created
Term
what does the FMRI gene usually do
Definition
shuttle RNA to its final translation location in axons and dentrites
Term
how can fragile x be identified on a karyotype
Definition
chromosome tip is contracted and looks like it is broken off
Term
what is the most common cause of mental retardation, what is the second
Definition
trisomy 21 is first
fragile x is second
Term
explain who gets fragile x more, male or females
Definition
males get it more because it is x linked but 50% of female "carriers" auctally have the disease due to lyonization
Term
explain lyonization
Definition
certina pieces of chromosomes are silenced. it isnt the same x in every cell (mosaic)
Term
what are three common symptoms of fragile x
Definition
facial dysmorphism: large mandible and ears
macro-orchidism (in 90%)
Term
how do you get a mitochonrdial disorder (2)
Definition
100% of mitochondria come from mom but some mitochondrial proteins are coded for in the nucleus
Term
why are mitochondrial disorders heterogemic
Definition
not all mitochondria will transfer from the mom to kid cell, not all mitochondria will ahve the mutation so you need a lot of them to cause the disease
Term
what organisms are most dependent on the mitochondria, what kid of defects will a mitochondria issue cause, why
Definition
CNS, skeletal muscle, liver, kidneys

issue causes deleterious defect on the organs because the enzymes of oxidative phosphorlyation (aerobic respiration) are messed up
Term
what disease is associated with a mitochondrial mutation
Definition
leber hereditary optic neuropathy (LHON)
Term
what are the signs of LHON (2), when does it occur
Definition
progressive bilateral loss of central vision
leads to blindness
occurs between 15-35 yo
Term
what are some signs on a pedigree that can help identigy mitochondrial disorder (2)
Definition
all moms kids have it
all the male children have no kids with it
Term
what is the normal function of methlyation in genes
Definition
deactivates genes, especially important in development
Term
what is genomic imprinting
Definition
epigenetic process where a gene is inactivated during gametogenesis

on one parent the gene is silenced and the other parent has an active gene
Term
what combination of genes causes prader willi syndrome
Definition
kid was supposed to get an active gene from dad and silenced gene from mom.

dads gene was deleted and now kid dosent get any gene (one deleted one silenced)

on CH15
Term
what are the signs of prader willi syndrome(5)
Definition
mental retardation
short stature
hypotonia (floppy baby)
obesity (hyperphagia)
hypogonadism
Term
what combination of genes causes angleman syndroome
Definition
the kid was supposed to get an active gene from mom and a silenced (imprinted) gene from day on CH15

something happened in oogenesis to mom's chromosome and the gene was deleted now the kid has no gene (one gene from dad that is silenced, no gene from mm)
Term
what are the signs of angleman syndrome (4)
Definition
mental retardation, ataxic gait, seizures, inappropirate laughter
Term
what is another name for angleman syndrome
Definition
happy puppet syndrome
Term
when do kids with angleman syndrome learn to walk, why
Definition
ataxia pushes walking to 5-6 yo due to coordination issues
Term
what is a cytogenetic disorder
Definition
whole chromosome derangement, things that affect the karyotype
Term
what cytogenic disorders are compatiable with life (4) what are their names
Definition
trisomy 13: patau syndrome
trisomy 18: edwards syndrome
trisomy 21: down syndrome
sex chromosome abnormalities (not only Y though)
these can still spontaneously abort
Term
when older men have children what problems occur
Definition
single gene defects like autism
Term
when older women have children what problems occur
Definition
non-dysjunction like trisomy 21
Term
what age does the maternal risk for miscarriage increase and fertility decrease
Definition
35
Term
what are the signs of down syndrome (12)
Definition
mental retardation
epicanthic folds making flat face
abundant neck skin
simian crease on hands
congenital heart defects
intestinal stenosis
umbilical hernia
predisposition to leukemia and infection
hypotonia
gap between first and second toe
large protrubrent tongue
later in life: neurodegeneration (alzheimers)
Term
what are the signs of edwards syndrome (10)
Definition
prominent occiput
mental retardation
micrognathia
low set ears
short neck
overlaping fingers
congenital heart defect
renal malformations
limited hip abduction
rocker bottom feet
Term
what are the signs of patau syndrome (9)
Definition
microphthamia
cleft lip and palate
mental retardation
microcephaly
polydactyly
cardiac defects
umbilical hernia
renal defects
rocker bottom feet
Term
are the three types of down syndrome and their abbreviations
Definition
trisomy 21: 47XX +21

mosaic: 46XX/47XX +21

robertsonian translocation: 45XX -14 -21 +t(14q21q)
Term
what are the type types of edwards syndrome, what are their abbreviations
Definition
trisomy 81: 47XX +18

mosaic: 46XX/47XX +18
Term
what are the two types of patau syndrome, what are their abbreviations
Definition
trisomy 13: 47XX +13

mosaic: 46XX/47XX +13
Term
what is the most common cause of trisomy 21
Definition
noondisjunction in gameotgenesis (95% of the time the extra chromosome comes from mom)
Term
what is the second most common cause of down sndrome, what happens
Definition
robertsonian translocation: inherited

long arm of 21 translocates to 14 and short arm of 14 leaves because it is argocentric (one short and one long arm) and the short arm is full of junk dna
Term
why do robenson translocations have a high spontaneous abortion rate
Definition
because out of 6 possible combinations of egg chromosomes with normal sperm chromosomes 3 cause abortion, 1 causes a carrier, and 1 causes down syndrom
Term
how is a mosaic down syndrome created
Definition
nondisjunction of Ch21 during embryogenesis
most cells will have a normal CH count so symptoms are variable
Term
what causes the symptoms of down synfrom
Definition
two genes are encoding NFAT (nuclear factor of activated T cells) a transcription factor that regulates genes in developmental pathways
Term
what causes death of children in down syndrome (3)
Definition
cardiac malformations (mostly), susceptability to leukemia and infection
Term
what causes death of adults in down syndrome, what is the median age
Definition
47 yo
dementia, neurochemical like alzheimers
Term
what is a cytogenic disorder that involves autosomes
Definition
chromosome 22q11.2 deletion syndrome (DiGeorge)
Term
what causes chromosome 22q11.2 deletion syndrome, what causes pathogenesis
Definition
deletion of a band of section 11 from long arm of CH22
deleted area contains a transcription factor for a gene
Term
how is chromosome 22q11.2 deletion syndrome diagnosed
Definition
FISH: flourescent in situ (in tissue) hybridization

uses control and chromosome 22q11.2 gene probe
Term
why are the symptoms of chromosome 22q11.2 deletion syndrome viarible
Definition
they depend on the extent and location of the deletion
Term
what are the signs of chromosome 22q11.2 deletion syndrome (7)
Definition
congenital heart defects
palate abnormalities
facial dysmorphism
developmental delay
T cell immune deficiency
hypocalcemia
psychosis/schizophrenia

(CATHC 22): cardiac defect, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia
Term
what is DiGeorge disease, what symptoms define it
Definition
it is a chromosome 22q11.2 deletion syndrome that has mostly T cell deficiency and thymus and parathyroid descention issues (causing hypocalcemia)
Term
what is velocardiofacial syndrome, what symptoms define it
Definition
a chromosome 22q11.2 deletion syndrome

cardiac defects, dysmorphology
Term
what are two general issues with sex chromosome disorders
Definition
sexual development and fertility
Term
when are sex chromosome disorders usually diagnosed
Definition
puberty because they are difficult to diagnose at birth
Term
how are extra X or Y chromosomes tolerated
Definition
Y is tolerated but X causes mental retardation when it increases
Term
what are 3 sex chromosome disorders
Definition
klinefelter syndrome
turner syndrome
XYY males
Term
what is the cause of klinefelter syndrome (2)
Definition
at least 2X and 1Y, usually 47 XXY due to non0disjunction in gametogenesis because of mom or dad

some are mosaics 46XY / 47XXY
Term
what causes pathogenesis in klinefelter syndrome
Definition
genes on extra X escape inactivation as occurs in normal females and leads to feminization
Term
what are signs of klinefelter (8)
Definition
hypogonadism: atrophy (common)
sterlity
elongated eunuchoid bodies (feminine)
reduced body hair
gynecomastia: increased risk of breast cencer
greater risk of extragonadial germ cell tumors and SLE (like in women)
Term
what is the cause of turner syndrome (2), which is worse
Definition
partial or complete monosomy of short arm of X chromosome

some are 45X: father produces sperm without a sex chromosome (more severe)

some have abnormalities in the X so they appear normal and have amenorrhea
Term
what are the signs of tuner syndrome
Definition
neck webbing
puffy hands or feed
short stature
primary or secondary amenorrhea
sterlity
antibodies to thyroid (hypothyroidism) in 50%
cardiovascular abnormalities
Term
why do people with turner syndrome have a webbed neck
Definition
cystic hygroma (increased fluid behind the neck) due to heart issue increases chance of birth defects and if persists it causes increased skin in the area
Term
what is the most common cause of death in kids with turner syndrome
Definition
heart problems
Term
what heart problems are seen in turner syndrome (2)
Definition
hypoplastic left heart
coarctation of the aorta
Term
what are the symptoms of a XYY male (2)
Definition
taller stature, cystic acne
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