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Down Syndrome Cause
Trisomy 21 Autosomal Aneuploidy
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What is Anueploidy
- Alterations in Chromosome Number
- When a cell is going though division it doesn't divide properly
A cell that does not contain a multiple of 23 chromosomes is an aneuploid cell.
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Manifestations of Down Syndrome
Mental retardation (IQ 20-70),
- Characteristic facial features:
- low nasal bridge, epicanthal folds, protruding tongue, low-set ears
Cardiovasular problems
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Down Syndrome- Describe What's age got to do with it?
Risk increases with Maternal age- May have something to do with the age of the oocyte
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Down Syndrome Fact- Increase Risk for...
developement of congenital heart disease, acute leukemia and alzheimer's disease
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Turner's Syndrome Cause
X Chromosome Monosomy
- Sex Chromosome missing
- Should have XX but has X nothing
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Turner's Syndrome Manifestations
Short stature, stalky build, crest chest, no breast tissue developement, congenital heart defect, webbing of the neck
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Turner's syndrome only found in
Females
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Turner's Syndrome Treatment
Treat with GH, Estrogen
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Klinefelter's Syndrome cause
- Has an extra X
- XXY
- 47 Chromosomes instead of 46
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Klinefelter's Syndrome- Where is the extra X from
Maternal origin in 2/3 of cases
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What is the most common genetic abnormality
Klinefelters Syndrome
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Klinefelter's Syndrome Manifestations
Syndrome is not always displayed
Tall stature (lacks testosterone), enlarged breasts, sparse body and facial hair, small testes and inability to produce sperm.
High pitched voice
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Trisomy is...
a cell containg 3 copies of one chromosome
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Klinefelter's Syndrome treatment
Treat with testosterone
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Autosomal Dominant
Single mutant allele from affected parent, abnormal allele is donimant and normal allele is rescessive (very rare)
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Dominant means
If you have the gene you will get the disease
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Recessive means
you have to get the gene from both parents in order to get the disease
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X-Linked Inheritance
genetic conditions are caused by genes located on the sex chromosomes
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X linked fact regarding male and female
Who is more likely to get and why
Found more in mails because they do not have another X to fall back on
females receive two X chromosomes, one from the father and one from the mother
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Marfan's Syndrome is A single gene disorder but what type?
Autosomal Dominant
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Marfan's Syndrome affects what tissues
skeletal, ocular, cardiocascular
(common- aortic anrysms)
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Marfan's Syndrome Manifestations
long thin body, archnodactyly (fingers abnormally long) kyphoscoliosis (abnormal curvature of spine) bilateral dislocation of lens, mitral valve prolapsed, aortic wall weakness, lifespan 30-40 yrs
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Huntington disease- what kind of disorder is it (what system)
Neurologic Disorder
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Huntington disease- is a single gene disorder but what type
Autosomal Dominant
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Huntington disease manifestations
Progressive dementia, Increasingly uncontrollable movements of limbs, mood swings, depression
Symptoms not evident until after age 40
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Phenylketonuria is a single gene disorder but what kind
Autosomal Recessive
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Phenylketonuria (PKU) is
a deficiency of liver enzyme phenylalanine hydroxylase resulting in toxic levels of phynylalanine
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Phenylketonuria (PKU) untreated leads to
mental retardation, micoceephaly (decrease brain size) delayed speech
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Phenylketonuria (PKU) detection and treatment
routinely screend in newborns
diet must restrict pheylalanine
(Pheylalanine is in diet sodas)
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Tay-Sachs Disease is a single gene disorder but what kind
Autosomal recessive
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Tay-Schs disease is what
lysosomal storage disease- failure of lysosomal degradation
- Waste gets into lysosomes but nothing happens-no breakdown
- gets larger and larger and ultimatly leads to death
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Tay-Schs disease is prevalent amoung what group of people
eastern European Jews
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Tay-Schs disease describe infants to age 4
infants are normal at birth but manifest progressive weakness at 6-10 months, death occurs before age 4
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Cystic Fibrosis is a single gene disorder but what kind
Autosomal Recessive
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Cystic Fibrosis In half persons with fibrosis death from _____ or ______ occurs before age 30
Lung Disease or Heart failure
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Cystic Fibrosis describe what's happening
Defective transport of chloride ions resulting in abnormally thick, dehydrated mucus
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Sickle Cell Enemia is (Autosomal Dominant or Autosomal Recessive)
Autosomal Recessive
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X linked disorders are
Prodominantly ______
______ are carriers
Affected male transmits gene to ______
- Predominatly RECESSIVE
- MOTHERS
are carriers - males transmits to ALL DAUGHTERS
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If father has the gene he give it to _______ who gives it to _________
If father has the gene he give it to HIS DAUGHTER who gives it to HER SON
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What kind of disorder is Hemophilia A
X Linked Disorder (FActor VIII deficiency)
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In hemophilia A 30% of new cases _____
have no family distory of the disorder
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Hemophilia A - what occurs
bleeding occurs in soft tissues, GI tract, hip, knee, elbow and ankle joint
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What kind of disorder is Fragile X Syndrome
X linked disorder
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Fragile X Syndrome Manifestations
- Mental Retardation
- long face with large mandible and large everted ears
- Macroco-orchidism in males pre-puberty
- ( abnormally large testes)
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Duchenne Muscular Dystophy (DMD) is what kind of disorder
X Linked disorder
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Duchenne Muscular Dystophy (DMD) manifestations
- Progressive muscular atrophy
- Unable to walk by 10-12 years
- Death by respiratory or cardiac failure by 20 years
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Multifacorial inheritance is cause by
multiple genes (polygenic traits) and may also have enrionmental factors
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Multifacorial inheritance can be expressed.....
during fetal life and be present at birth or expressed later in life
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Some examples of Congenital disorders
Cleft lip or palate, clubfoot, congenital heart disease, pyloric stenosis
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Some examples of Multifacorial inheritance that develop later in life
coronary artery disease, diabetes mellitus, hypertension, cancer, schiophrenia, manic depressive phychososes
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