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48 Cards in this Set

  • Front
  • Back
Down Syndrome
Trisomy 21
47XX + 21, 47XY + 21
usually results from nondisjunction
severe mental retardation, progressive decline in IQ with age.

flat face, slanted eyes, malformed eyes, epicanthic folds of eyes (mongolism), brushfield sports (speckled appearance of the iris). Simian crease on hands.

1/3 suffer from congenital cardiac disease.

15x greater risk of leukemia (ALL)

Alzheimer disease universally demonstrable by 35 years of age.
Crouzon's Syndrome
Autosomal dominant
Craniofacial dysostosis- premature fusion of skull sutures.
Increased intracrnial pressure --> mental retardation.
Hearing, speech, visual abnormalities, convulsions.
GFGR2 and GFGR3 genes.
Treacher-Collins Syndrome
Autosomal dominant.
Mandibulofacial dysostosis.
Severe hypoplasia of derivatives from 1st and 2nd branchial arches.
TCOF1 gene.
Papillon-Lefevre Syndrome
Autosomal recessive.
Hyperkeratosis of skin- palms/soles.
Premature tooth loss.
Cathepsin C gene.
group of disorders-abnormality of osteoclases.
most severe form--infantile (malignant).
autosomal recessive.
Dense, fragile bones, malformed teeth, infections, blindness, deafness, anemia.
X-Linked DOminant Disorders
Females 2x>males
Males --> all daughters
Females --> 1/2 daughters, 1/2 males
More severe in males -- Lyon Hypothesis.
Vitamin D Hypophosphatemic Rickets
X-linked dominant
Bowing, growth retardation
Absent/delayed dentition
Multiple abscesses
Hypoplastic Amelogenesis Imperfecta
X-linked dominant
Smooth Diffuse AI
AMEL gene
Males- yellow, thin enamel
Females- vertical furrows
Lyon Hypothesis
Fragile X syndrom
X-linked recessive
FMR-1 gene
Mental retardation
Elongated head, ears, prognathic, enlarged testes.
Amplification of CGG on X chromosomes --> 200+ repeats is when phenotype is expressed.
Syndromic Cleft Lip/Cleft Palate
Van der Wonde Syndrome.
Paramedian lip pits.
IFR6 gene (Interferon regulatory factor 6)
Non-syndromic cleft lip/cleft palate
Growth factors TGFalpha, TGFbeta3
Transcription factors: MSX1
CEll adhesion molecules = PVRL1
ENvironmental factors- alcohol, smoking, retinoids (for acne), vitamin def (folate), infections
Principles of teratology
Susceptibility toteratogens is variable.
Susceptibility to teratogens is specific for each developmental stage.
mechanism of teratogenesis is specific for each teratogen.
Teratogenesis is dose-dependent.
Teratogens produce death, grwoth retardation, malformation, or functional impairment.
absence of organ, absence of part of an organ, absence of tissues/cells within an organ.
absence of an organ coupled with persistence of the organ anlage or a rudiment that never developed completely.
reduced size owing to incomplete develpoment of all or part of an organ.
Dysraphic anomalies
defects caused by the failure of apposed structures to fuse (spina fibida).
Involution failures
persistence of embryonic or fetal strucutres that should involute at certain stages of development.
defects cuased by the incomplete formation of a lumen.
abnormal organization of cells into tissues.
retention of an organ at the site where it is located during development.
congenital absence of the cranial vault; cerebral hemispheres completely missing or reduced to small malles.

Defect of neural tube closure.

Others: craniorachischisis, spina bifida, meningocele, myelomeningocele
TORCH complex
TOxoplasma (gondii = protozoa)
HErpes simples virus, HIV

Lesions of brain (encephalitis), ocular defects, cardiac anomalies
Lyon Effect
One X chromosome is inactivated early in embryogenesis. Either the paternal or maternal X chromosome is inactivated randomly.
Klinefelter Syndrome
(47,XXY) = male
male hypogonadism (lack of androgens), infertility, abnormal testes do not respond to stimulation by gonadotropins

children are tall and thin, long legs; testes and penis remaind smalle; high-pitched voice, female pattern of pubic hair, mental retardation.
Turner Syndrome
(45, X) = female
sexual infantilism, absence of menarche, shorter than 5 ft, short webbed neck, hyperconvex fingernails, low posterior hairline. horseshoe kidney and malrotation, prominent ears, epicanthal folds.

Ovaries are converted to fibrous streaks.

1/2 have CARDIOVASCULAR ANOMALIES: coarctation of aorta and bicuspid aortic valve.

Treated with GH and estrogens --> normal life
Marfan Syndrome
autosomal dominant, inherited disorder of CT.

Mutation in gene coding for fibrillin- long arm of chromosome 15.

People are tall, arachnodactyly: spider fingers, long skull, weak tendons, ligaments, joint capsules, double-jointedness

CARDIOVASCULAR DISORDERS most common cause of death (defect in aorta, dissecting aneurysm)

Ocular changes
Cystic Fibrosis

chronic pulmonary disease, results from abnormal electrolyte transport-- impaired function of a chloride channel of the epithelial cells.

MOST COMMMON lethal autosomal recessive disorder in the WHITE population (1/2500 newborns)

Mutations in the gene (encodes a protein called CFTR CF transmembrane conductance regulator) disturb the f(n) of the chloride channel; cells don't secrete cl and H2O and increased sodium absorption.

Abnormally thick mucus
Chronic bronchiolitis and bronchitis, chronic pancreatitis, secondary biliary cirrhosis, meconium ileus
Gaucher disease
most common lysosomal storage disease (autosomal recessive)

deficiency in glucocerebrosidase-- accumulation of glucosylceramide, primarily in the lysosomes of mac's.

Gaucher cells = lipid-laden macrophages.

Enlargement of spleen is universal; liver is usually enlarged.

Adult ashkenazi jews
Found principally in adult Ashkenazi jews.
Tay-Sachs Disease
lysosomal storage disease, autosomal recessive

Deposition of ganglioside GM2 in the neurons of the CNS owing to a failure of lysosomal degradation. Results from mutation in gene that codes for hexosaminidase A.

Ashkenazi jews.

Neurons are lost; numerous lipid-laden mac's are conspicuous in the gray matter; myelin and axons in the white matter are eventually lost.

Motor and mental deterioration, vision impaired.

Cherry-red spot in macula = retinal ganglion cells involved.

Kids die before age 4
Hurler Syndrome
prototype of lipid storage diseases.

Most severe form of Mucopolysaccharidoses.

Skeletal deformities, enlarged spleen/liver, joint stiffness.

Gargoylism: coarse facial features + dwarfism.

Developmental delay, hearing loss, clouding of cornea, progressive mental deterioation; hydrocephalus.

most patients die before age 10 from pulmonary infections and cardiac complications.
PKU (phenylketonuria)
autosomal recessive

Deficiency of hepatic enzyme phenylalanine hydroxylase (PAH)-- high levels of circulating phenylalanine --> severe brain damage.

Phenylalanine: essential A.a. derived exclusively from diet.
PA --> tyrosine by PAH

Responsible for neurologic damage central to this disease. Irreversible brain damage.
autosomal recessive

Absent/reduced biosynthesis of melanin.
Most common type: OCA = oculocutaneous albinism.

2 forms are distinguished by presence/absence of tyrosinase = 1st enzyme in the biosynthetic pathway that converts tyrosine to melanin (tyrosinase + and tyrosinase -).

Severe eye problems.
great risk for developing squamous cell carcinoma of the skin.
Multifactorial Inheritance
DEscribes a disease process that reflects the additive effects of a # of abnormal genes and environmental factors.
Huntington Disease
expansion of CAG repeat

autosomal dominant
Myotonic Dystrophy
expansion of CTG repeat
Freidreich Ataxia
autosomal recessive disease of brain and heart

expansion of GAA repeat in fratasin gene.
Ehlers-Danlos Syndrome
Autosomal dominant

Disorder of CT characterized by remarkable hyperelasticity and fragility of the skin, joint hypermobility, and a bleeding diathesis.

Generalized defect in COLLAGEN.

EDS IV; death from spontaneous rupture of large arteries, bowel, adn pregnant uterus.

EDS III: severe periodontal disease

Most clinically important: type III collagen (arteries), also type I
Osteogenesis Imperfecta
Brittle bone disease

autosomal dominant, affects synthesis of TYPE I COLLAGEN.

4 types:
OI Tarda (1): most common, fracture of bones during infancy, BLUE SCLERAE, HEARING LOSS

OI congenita (2): fatal in utero

Malformation of dentin.
autosomal dominant-- benign tumors of the peripheral nerves of Schwann cell origin.

NF Type 1: von recklinghausen disease, peripheral NF, chronic, affects PNS; NF1 gene no longer suppresses the ras protein.

Cafe-au-lait spots, lisch dnodules (iris), skeletal lesions.

NF type 2 (central NF); affects CNS; NF2 encodes a tumor suppressor called merlin or wchwannomin.

BILATERAL ACOUSTIC NEUROMAS -- hearing loss, auditory nerve tumors, ringing in ears, facial pain
Familial Hypercholesterolemia
autosomal dominant

striking acceleration of atherosclerosis and its complications.

Deficiency in receptors that remove LDL from blood. Forms arterial plaques.
Niemann-Pick Lipidoses
lysosomal storage disease, autosomal recessive.

lysosomal storage of sphingomyelin, cholesterol, and other glycolipids in MACROPHAGES of many organs.

ashkenazi jews.

mutations in gene that encodes sphingomyelinease.

FOAM CELL = enlarged mac with vacuoles containing spingomyelin and cholesterol.

Organ involved: brain -- neurologic damage is the usual cause of death.
lysosomal storage disease, autosomal recessive

accumulation of glycosaminoglycans (GAG's) in many organs.

CNS: loss of neurons, increasing gliosis
Skeletal deformities
Cardiac lesions

Hurler Syndrome
Glycogenoses (Glycogen Storage diseases)
lipid storage disease, autosomal recessive.

Type IA: von gierke disease - accumulation of glycogen in LIVER; def in glucose-6-phosphatase

Type II: pompe disease; involves all organs and results in death from HEART FAILURE (restrictive cardiomyopathy); def in acid alpha-glucosidase.

Type V: McArdle disease: accumulation of glycogen in skeletal muscles; def of muscle phosphorylase
Alkaptonuria (Ochronosis)
autosomal recessive

excretion of homogentisic acid in the urine, generalized pigmentation, arthritis.
Muscular Dystrophies
X-linked recessive
Duchenne and Becker Muscular dystrophies.

wasting muscle diseases. duchenne most common.

deficiency of dystrophin (membrane cytoskeletal protein).

cardiac symptoms are universal in advanced disease.

mean age of death = 17. boys.
Hemophilia A
Factor VIII deficiency
x-linked recessive
Fragile X syndrome
x-linked recessive
expansion of CGG repeat in a non-coding region, where it silences an adjacent gene.

mental retardation profound.

A large portion of autistic male children carry a fragile X chromosomes.
Fabry Disease
X-linked recessive

extremely painful systemic disorder related to deficiency of enzyme alpha-galactosidase

Glycolipid (glycosphingolipid) accumulation.

Ashkenazi Jews