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MFM I > Diseases and Disorders Exam 7 > Flashcards

Diseases and Disorders Exam 7 Flashcards

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1
Q

Polyploidy

A
  • individuals have 69 or 92 chromosomes (whole sets added)

- die soon after birth

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2
Q

Anueploidy

A
  • results from nondisjunction during anaphase of meiosis or mitosis
  • can be monosomy or trisomy
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3
Q

Trisomy 21

A
  • aka Down’s syndrome
  • most common autosomal aneuploidy
  • characteristics: intellectual disability, GI obstruction, congenital heart defects, respiratory infections, predisposition for leukemia
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4
Q

Trisomy 18

A
  • aka Edward’s syndrome
  • characteristics: prenatal growth deficiency, congenital heart defects, <10 % live past 1 year, intellectual disability, low-set ears, small mouth and chin, “rocker-bottom” feet
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5
Q

Trisomy 13

A
  • aka Patau syndrome
  • characteristics: cleft lip/palate, microphthalmia, polydactyly, malformations of CNS, cardiac defects, <10% survive past first year
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6
Q

Turner Syndrome

A
  • monosomy of the X chromosome
  • individuals are female
  • characteristics: short stature, broad shield-like chest, webbed neck, gonadal dysgenesis, congenital heart defects
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7
Q

Klinefelter Syndrome

A
  • Male
  • 47, XXY
  • most frequent aneuploidy of sex chromosomes
  • characteristics: tall and thin with long limbs, hypogonadism, low testosterone, breast development, infertility
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8
Q

Trisomy of the X Chromosome

A
  • XXX
  • female
  • sterility, menstraul irregularity, mild intellectual delay
  • usually taller than average
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9
Q

47, XYY Syndrome

A
  • male
  • taller than average
  • slightly lower IQ
  • increased risk for minor behavior disorders
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10
Q

BCR-ABL Translocation

A
  • balanced translocation between chromosomes 9 and 22
  • produces Philadelphia chromosome
  • BCR-ABL is constitutively active and leads to CML
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11
Q

Robertsonian Translocation

A
  • short arms of 2 non-homologous chromosomes are lost and the long arms fuse at the centromere
  • occurs between 2 acrocentric chromosomes
  • usually no effect on carrier
  • karyotype has 45 chromosomes
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12
Q

Down Syndrome and Robertsonian Translocation

A
  • individuals inherit a derivative chromosome from a robertsonian translocation
  • leads to 3 copies of the 21q arm
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13
Q

Cri-du-Chat Syndrome

A
  • caused by deletion of the distal end of te short arm of chromosome 5
  • laryngeal defects lead to high pitched, cat-like cry
  • other characteristics: intellectual disability, microcephaly
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14
Q

Wolf-Hirschhorn Syndrome

A
  • deletion occurs at 4p16, very close to the telomere
  • characteristics: delayed growth and development, failure to thrive, hypotonia, short stature, skeletal and dental abnormalities, cleft palate, intellectual disability
  • facial features: broad, flat nasal bridge, high forehead, wide spaced eyes, downturned mouth
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15
Q

22q11 Deletion Syndrome

A
  • aka DiGeorge Syndrome
  • most common MICRODELETION
  • defective embryonic migration of neural crest cells to the developing structures of the neck
  • characteristics: congenital heart defects, cleft palate, defects of thymus, hypoparathyroidism, developmental delay, ADD, anxiety, autism
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16
Q

Williams Syndrome

A
  • microdeletion
  • deletion contains elastin gene (ELN) and LIMK1 (brian kinase)
  • characteristics: mild intellectual disability, cardiovascular defects, poor visuospatiaal abilities
  • facial features: broad forehead, short palpebral fissure, low nasal bridge, full lips and cheeks, large mouth
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17
Q

Charcot-Marie-Tooth Disease

A
  • aka Hereditary Motor and Sensory Neuropathy
  • Type 1A is caused by a duplication of the PMP22 gene on chromosome 17 leading to an increased production to the PMP22 protein which causes abnormal structure of the myelin sheath
  • resulting condition is demyelinating peripheral polyneuropathy
  • sx: slow, progressive muscle weakness and atrophy, upper extremity ataxia and tremor
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18
Q

Hemophilia A

A
  • can be caused by a chromosome inversion
  • X- linked recessive
  • mutation in gene for clotting factor VIII
  • lead to severe bleeding, hemorrhages, bruising, etc
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19
Q

Ring Chromosome 14 Syndrome

A
  • chromosome undergoes 2 breaks and fuses into a ring
  • sx: seizures, intellectual disability, delayed cognitive and motor development, slow growth, short stature, microcephaly, lymphedema
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20
Q

Achondroplasia

A
  • most common form of dwarfism
  • autosomal dominant
  • caused by Gly380Arg in FGFR3 gene which controls bone growth and development
  • gain of function mutation leads to inhibition of chondrocyte proliferation
  • sx: short limbs, long and narrow trunk, macrocephaly with prominent forehead
  • homozygous individuals are not viable (do not consider this when calculating percents of offsprings)
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21
Q

Marfan Syndrome

A
  • autosomal dominant
  • mutation in fibrillin-1 (FBN1) gene which leads to abnormal TGF-beta signaling
  • sx: aortic aneurysm or dissection, ectopic lentis, tall with abnormally long arms, arachnodactyly with joint hypermobility
  • example of pleiotropy: disruption of one gene leads to multiple apparently unrelated sx
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22
Q

Neurofibromatosis

A
  • type I
  • autosomal dominant
  • mutation in NF1
  • sx: multiple fleshy tumors, irregularly pigmented skin, benign tumors of iris
  • example of variable expressivity: degree of severity varies greatly in people with the same mutation
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23
Q

Familial Hypercholesterolemia

A
  • autosomial dominant
  • mutation in LDL receptor gene
  • heterozygous have cardiovascular disease by 30-40
  • homozygous have it in childhood
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24
Q

Retinoblastoma

Study These Flashcards
A
  • mutations in RB1
  • predisposes to retinal cancer
  • example of reduced/incomplete penetrance: is actually recessive inheritance but heterozygous individuals have a higher chance of acquiring a second mutation which will result in cancer
25
Cystic Fibrosis
- autosomal recessive - mutation in CFTR: a Cl- transporter in the ABC transporter family - example of allelic heterogeneity: there are lots of different mutations and the severity of disease is determined by the type of mutation
26
Tay-Sachs
- autosomal recessive - deficiency of hexosaminidase A which leads to an accumulation of gangliosides in neurons - neurological degeneration begins around 3- 6 months and progresses until death at age 2-4 - cherry-red spot in retina
27
Dominant Negative effect of p53
- whether p53 mutations act recessive or dominant depends on the type of mutation since the protein forms tetramers - if the mutants cannot associate with the normal proteins it acts as a recessive - if the mutants can associate with the normal it acts as dominant
28
Beta-thalassemia
- can be dominant or recessive depending on the type of mutation
29
Rett Syndrome
- X-linked dominant - mutations in MECP2 gene which normally inhibits transcription of some genes during development - seen in females, but is usually lethal in males when a normal allele is not present - sx: spastic and ataxic, *wringing or flapping movements of hands*, microcephaly, seizures
30
Vitamin D-Resistant Rickets
- X-linked dominant - aka hereditary hypophophatemic rickets - mutations in PHEX gene which regulates phosphates - sx: arise early in childhood- slow growth, short stature, bone abnormalities, low phosphate reabsorption
31
Royal Hemophilia A
- X-linked recessive - mutation in clotting factor VIII - queen victoria was a carrier - all affected individuals are male - sx: bleeding, bruising, hemmorhaging
32
Musclular Dystrophies
- X-linked recessive - mutations in DMD gene for protein dystrophin - Duchenne: frameshift mutation causing complete lack of dystrophin and a more severe disease. More common. - Becker: a non-frameshift mutation causing a reduced amount/defective dystrophin which causes a less severe pathology
33
Christianson Syndrome
- X-linked recessive - mutation in SLC9A6 gene which encodes a Na/H exchanger - sx: developmental delay, intellectual disability, inability to speak, ataxia, seizures
34
Leber Hereditary Optic Neuropathy (LHON)
- mitochondrial inheritance - can be caused by several mutations - heteroplasmy is minimal so patients have same sx - arises in teens and 20's - sx: blurry vision, movement disorders, cardiac conduction defects
35
Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
- mitochondrial inheritance - mutation in MT-TK gene for lysine tRNA - heteroplasmic mtDNA so expression is highly variable - sx: twitching, seizures, ataxia - characterized by ragged-fibers
36
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
- mitochondrial inheritance - can be caused by several mutations - heteroplasmic and expression is highly variable - sx appear in childhood - sx: muscle weakness and pain, headaches, vomiting, seizures, stroke-like episodes
37
Leigh Syndrome
- mitochondrial inheritance - mutation in ATP6 gene - sx appear in first year of life - sx: vomiting, diarrhea, dysphagia, weak muscle tone, usually fatal within first few years
38
Trisomy 21 mosaicism
- nondisjunction of chromosome 21 occurs during mitosis - phenotype is less extreme - 2 populations of cell types: one with 46 and one with 47
39
Fragile X Syndrome
- example of incomplete penetrance, and maternal anticipation - severity of disease is determined by the number of CGG repeats at the 5'UTR of the FMR1 gene, leading to silence through DNA methylation - one of the most common causes of intellectual disabilities - sx: microsomia, macrocephaly, prominent forehead and jaw, large ears, abnormally large testicles after puberty
40
Osteogenesis Imperfecta
- example of locus heterogeneity - subunits of pro collagen are encoded by 2 genes on chromosomes 7 and 17, mutations in either can cause the same phenotype - mutations in other genes can also give rise to the disease
41
Prader-Willi syndrome
- example of imprinting - PWS gene on chromosome 15 is imprinted on maternal chromosome - if mutated gene inherited from dad then disease occurs - sx: neonatal hypotonia, hyperphagia and obesity by age 2-4
42
Angelman syndrome
- example of imprinting - AS gene on paternal chromosome 15 is imprinted - is mutated gene inherited from mom then disease occurs - sx: puppet-like posture, severe intellectual disability, seizures
43
Huntington's Disease
- autosomal dominant - example of paternal anticipation - number of CAG repeats in a mans HD gene can expand when passed to his offspring - this can lead to offspring having earlier onset of the disease
44
Thanatophoric dysplasia and hypochondroplasia
- mutation of FGFR3 (same as achondroplasia) - severity of disease is determined by which domain of the protein is mutated - hypochondroplasia is the mildest from - Thanatophoric dysplasia is the most severe
45
Apert syndrome
- mutation in FGFR2 | - sx: craniosynostosis and syndactyly
46
Disorders associated with the RAS-MAPK pathway
- Noonan syndrome - Costello syndrome - Cardiofaciocutaneous syndrome
47
Gorlin syndrome
- mutations in PTCH | - sx: rib abnormalities, cysts of the jaw, basal cell carcinoma
48
Grebe chondrodysplasia
- mutation in CDMP1 (*a member of the BMP family) | - sx: short stature, short limbs, brachydactyly (knob like fingers)
49
Tetra-amelia syndrome
- loss-of-function in WNT3 - sx: absence of all 4 limbs, malformations to face, head, heart, nervous system and genetalia - most die shortly after birth
50
HOXD13 mutations
- expansion of polyalanine residues in the protein (gain-of-function) - phenotype: synpolydactyly - has incomplete dominant inheritance - heterozygotes: webbed fingers, extra digits - homozygotes: more severe with bone malformations
51
Holt-Oram syndrome
- loss-of-function of TBX5 which plays a role in organogenesis and axis formation of the upper limb - sx: abnormal development of upper limbs, triphalangeal thumbs, short forearms, heart defects
52
Pallister-Hall syndrome
- truncated GLI3 protein with abnormal function | sx: polydactyly with fused digits
53
Greig cephalopolysyndactyly
- Loss-of-function mutation in GLI3 | - sx: polydactyly with fused digits
54
Acute intermittent prophyria
- autosomal dominant - deficiency of porphobilinogen deaminase - increased urine porphobilinogen
55
G6PD deficiency
- X-linked recessive - hemolytic anemia - more susceptible to oxidative stress
56
- Lesch-Nyhan syndrome
- X-linked recessive - deficiency of HGPRT - sx: self mutilating behaviors, gouty arthritis
57
Menke's disease
- X-linked recessive - Mutation in ATP7A, a copper transporter - have low copper
58
OTC
- X-linked recessive - mutation in OTC gene - increased ammonia in blood
59
SCID
- x-linked recessive | - highly susceptible to infection

MFM I (10 decks)

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