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89 Cards in this Set
- Front
- Back
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Which Type of Osteogensis Imprefecta is fatal?
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Type 2
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What are some signs of Osteogenic Imperfecta Type 1?
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Blue sclera
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Osteogensis imperfecta Type 1 is which genetic inheritance pattern?
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AD
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What is incomplete/partial prenetrance?
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Mutation that does no produce a mutant phenotype in everyone who has the mutant genotype
Not variability! Just whether there are symptoms or not! |
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What does % penetrance tell us?
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How many of the homozygotes have the phenotype
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What is an example of a penetrance gene?
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BRACA 1 and BRACA 2
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What is genocopy?
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Different mutations make similar phenotypes
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Name same disease that display genocopy?
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CF
SCIDS Thalisemias Osteogensis Imperfecta Congenital deafness |
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What is polymorphism?
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Multiple alleles for a gene in a populations above 5%
Blood groups ABO |
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What is polygenic traits?
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Phenotypes determined by multiple genes
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What is pleiotropy?
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Single genes controls multiple traits
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Name some diseases that are pleitrophic?
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CF
Phenylketonuria Hurler Marfan Achondroplasia NF |
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What is the mutation and inheritance of Marfan?
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AD
Mutations in fibrillin gene |
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What is special about Plexiform NF?
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Histologically distinct from dermal NF
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What is an example of codominace?
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Blood groups
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Leber Hereditary Opitc Neuropathy is cause by what inheritance?
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Mitochondrial
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Kearn-Sayre Syndrome is caused by what inheritance?
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Mitochondrial
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What is anticipation?
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A mutant phenotype that increase in severity each generation
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Fragile X syndrome is an example of which inheritance pattern
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Anticipation
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What is the defect in fragile x?
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FMRP = Chaperon protein for mRNAs inbrain
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Symptoms of fragile X?
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Hand flapping
Biting temper tantrums Long face Big balls Large ears |
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What are three trinucleotide expansion diseases?
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Fragile X
Huntington Myotonic Muscular Dystrophe |
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What is epigenic imprinting?
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Mutant genotype with different phenotype depending on contex (i.e. sex of parent)
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What are 2 epigenic imprinting diseases?
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Prader-Willi
Angelman Syndrome |
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Symptoms of Prader-Willi?
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Obesity
Small genitalial Behavior problems Mild Mental retardation/learning disabilities |
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Symptoms of Angelman?
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Happy
Puppet like movements Retardation |
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Which chromsome is involved with Angleman and Prader-Willi?
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15
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Angleman is a microdeletion of chromosome 15 from
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Mother
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Prader-Willi is a microdeletion of chromosome 15 from
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Father
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Symptoms of Marfans
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Tall
Pectus excavtum Arachnodactyly |
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What are some of the indications of cytogenetic anaylsis?
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Unusual symptoms
Stillborn infant with malformation Couple with 2 unexplained miscarriages Patient with cancer Parents of a child with an aberration Offspring of a parent with know problems |
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Which cells do you purify for karyotpye
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White blood cells
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You must suspend the cells in ___ for karoyotype
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Mitosis
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Which solution is used to swell cells and untangle chromosomes?
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KCl
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Which stains are used in karyotypes?
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Giemsa Dye
FISH probes |
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What is fast and easier that G banding?
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FISH
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What is FISH?
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You use a single stranded probe to become hyberdized to a single stranded target
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What are the three different kinds of FISH probes?
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Centromeric
Locus Specific Chromsome paints |
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What do you use centromeric probes for?
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Indemnifying trisomies
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What is an interphase probe?
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Identifying chromsomes
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What is a metaphase probe?
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Identifying loci
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Metaphase, unlike interphase probes, require
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Living cells that are dividing
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How are karyotypes numbered?
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From largest to smallest except for sex chromosomes
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The q arm of the chromosome is the (large/small) arm
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Large
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Telomeres are found where in the chromosome?
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Ends, the caps keep from degradation
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Where is the centromere in a metacentric chromosome?
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Center
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Where is the centromere in an acrocentric chromsome?
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Towards end
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What kind of chromosomes cause Robertsonian translocations?
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Acrocentric
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47, XX, +13 means what?
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47 chromosomes
Female Abnormal 13 chromosome |
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How are polyploidies formed?
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Polyspermy or retention of polar body
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Aneuplodiies are caused by?
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Nondisjunction
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A genetic mosaic can be a result of
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Mitotic nondysjunction in blastomere
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What is the etiology of aberrations?
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Chromosomal cleavage > DNA Ligase in wrong orientation
Requires two or more breaks |
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What are the charcterisitcs of a balanced aberration?
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Silent in carriers
Progeny effected |
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What is a reciprocal translocation caused by?
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Duplication and deletion
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What is the prognosis of polyploidy?
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Livebirths are uncommon
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What is common with the fingers of a triploid?
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Syndactyly of fingers 3 and 4
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XXY
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Extra Y
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XXY
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Klienfelter
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XO
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Turner
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XXX
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Triple X
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Which are the most common aneuplodies?
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Extra Y
Klienfelter |
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Which are the least common aneuplodies?
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Ones with large chromosomes
Like Patau |
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What is the critical region of Downs?
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Region q22 on chromosome 21
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What are some common charcrteristics of down syndrome?
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Oblique palpebral fissures
Narrow palate Hyperflexibility Small ears, flat nose, mouth open with protruding tongue |
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What is a symptom of Downs in eyes?
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Brushfield spots
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What is the most common killer in Down Syndrome?
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Congenital heart disease
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What is the critical region for Edwards?
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NONE!
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What is a common feature of Trisomy 18?
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Overlapping fingers 2&5 and 3&4
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Rocker bottom feet is associated with
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Edwards
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What is the mortality rate of Edwards?
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Very high from weeks to a few years.
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Holoprosencephaly and cyclopiais associated with?
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Pataue
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Cystic hygroma can be a result of
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Turner's
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XYY is associated with
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ADHD
Tall stature No malformations |
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47 XXX is associated with
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Possible endocrine or fertility problems
Tall stature No malformations |
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Cri du Chat is caused by
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Deletion of a region near the end of the p arm of chromosome 5
5p- |
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What are symptoms of Cri du Chat?
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Cat like cry
Mental retardation Elongated face |
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What is Wolf-Hirshorn caused by?
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4p-
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Wolf-Hirshorn symptoms?
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Frontal bossing
Cleft lip Heart defects IQ<20 |
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What are some microdeletion syndromes?
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Prader-Willi
Angelman Williams DiGeorge Velocardiofacial syndrome |
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What is Williams Syndrome?
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7q11.2 deletion
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Symptoms of Williams Syndrome?
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Elfin faces
Aptitude for music |
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What are 3 CATCH 22 Deletion syndromes?
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DiGeorge
Velocardiofcaial Conotrucal anomaly face syndrome |
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What is CATCH 22?
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Cardiac Defect
Abnormal Facies Thymic aplasia Cleft Pallet Hypocalcemia 22 q 11.2 -11.3 deletion |
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How is X linked recessive usually passed?
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Never from father to son
Mother to son |
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How is X link dominant usually passed?
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Father to Daughter
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Sex influenced traits are seen in
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Autism
Congenital hip dysplasia |
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Sex limited traits are seen in
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BRACA 1
5a-reductase def |
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What is a true hermaphrodite
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Fusion of XX and XY zygote
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