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MFM I > Diseases and Disorders Exam 7 > Flashcards

Diseases and Disorders Exam 7 Flashcards

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

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
Q

Cystic Fibrosis

A
  • 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
Q

Tay-Sachs

A
  • 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
Q

Dominant Negative effect of p53

A
  • 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
Q

Beta-thalassemia

A
  • can be dominant or recessive depending on the type of mutation
29
Q

Rett Syndrome

A
  • 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
Q

Vitamin D-Resistant Rickets

A
  • 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
Q

Royal Hemophilia A

A
  • X-linked recessive
  • mutation in clotting factor VIII
  • queen victoria was a carrier
  • all affected individuals are male
  • sx: bleeding, bruising, hemmorhaging
32
Q

Musclular Dystrophies

A
  • 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
Q

Christianson Syndrome

A
  • X-linked recessive
  • mutation in SLC9A6 gene which encodes a Na/H exchanger
  • sx: developmental delay, intellectual disability, inability to speak, ataxia, seizures
34
Q

Leber Hereditary Optic Neuropathy (LHON)

A
  • 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
Q

Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)

A
  • 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
Q

Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)

A
  • 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
Q

Leigh Syndrome

A
  • 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
Q

Trisomy 21 mosaicism

A
  • nondisjunction of chromosome 21 occurs during mitosis
  • phenotype is less extreme
  • 2 populations of cell types: one with 46 and one with 47
39
Q

Fragile X Syndrome

A
  • 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
Q

Osteogenesis Imperfecta

A
  • 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
Q

Prader-Willi syndrome

A
  • 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
Q

Angelman syndrome

A
  • 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
Q

Huntington’s Disease

A
  • 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
Q

Thanatophoric dysplasia and hypochondroplasia

A
  • 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
Q

Apert syndrome

A
  • mutation in FGFR2

- sx: craniosynostosis and syndactyly

46
Q

Disorders associated with the RAS-MAPK pathway

A
  • Noonan syndrome
  • Costello syndrome
  • Cardiofaciocutaneous syndrome
47
Q

Gorlin syndrome

A
  • mutations in PTCH

- sx: rib abnormalities, cysts of the jaw, basal cell carcinoma

48
Q

Grebe chondrodysplasia

A
  • mutation in CDMP1 (*a member of the BMP family)

- sx: short stature, short limbs, brachydactyly (knob like fingers)

49
Q

Tetra-amelia syndrome

A
  • 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
Q

HOXD13 mutations

A
  • 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
Q

Holt-Oram syndrome

A
  • 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
Q

Pallister-Hall syndrome

A
  • truncated GLI3 protein with abnormal function

sx: polydactyly with fused digits

53
Q

Greig cephalopolysyndactyly

A
  • Loss-of-function mutation in GLI3

- sx: polydactyly with fused digits

54
Q

Acute intermittent prophyria

A
  • autosomal dominant
  • deficiency of porphobilinogen deaminase
  • increased urine porphobilinogen
55
Q

G6PD deficiency

A
  • X-linked recessive
  • hemolytic anemia
  • more susceptible to oxidative stress
56
Q
  • Lesch-Nyhan syndrome
A
  • X-linked recessive
  • deficiency of HGPRT
  • sx: self mutilating behaviors, gouty arthritis
57
Q

Menke’s disease

A
  • X-linked recessive
  • Mutation in ATP7A, a copper transporter
  • have low copper
58
Q

OTC

A
  • X-linked recessive
  • mutation in OTC gene
  • increased ammonia in blood
59
Q

SCID

A
  • x-linked recessive

- highly susceptible to infection

MFM I (10 decks)

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