Shared Flashcard Set

Details

Developmental and Genetic Diseases
NA
28
Pathology
Professional
01/28/2011

Additional Pathology Flashcards

 


 

Cards

Term

 

 

Fetal Alcohol Syndrome

Definition

 

 

  • severe mental retardation
  • characteristic facial features include small head, flat midface, epicanthal folds, thin upper lip
Term

 

 

 

Thalidomide

Definition

 

 

  • used a sedative and caused phocomelia (seal limbs)
Term

 

 

Fetal Alcohol Effect

Definition

 

 

low birth weight and IQ

Term

 

 

Indirect microbial infection

Definition

 

 

  • the mother is infected
  • low birth rate
  • growth retardation
  • premature
Term

 

 

Direct microbial infections

Definition

 

  • The fetus is infected
  • TORCH
    • Toxoplasma, Others, Rubella, Cytomegalovirus, Herpes
Term

 

 

  • Rubella
Definition

 

 

 

  • Infection in 1st trimester is the most serious
  • Causes deafness, microencephaly, heart defects, ocular abnormalities
Term

 

 

"Cri du Chat"

Definition

 

  • Deletion of chromosome 5
  • Characteristics: small head, reduced muscle tone, malformed vocal cords, so they have a shrill cry like a cat
Term

 

 

WAGR Syndrome

Definition

 

 

 

  • Loss of part of short arm of chromosome 11
  • Wilms tumor, Aniridia, Genital malformation, mental Retardation
Term

 

 

Retinoblastoma

Definition

 

 

  • Loss of part of long arm of chromosome 13
  • Rb is a tumor suppressor gene
Term

 

 

Chronic myelogenous leukemia

Definition

 

  • translocation between chromosome 21 and 22 or 21 and 14--> zygote has normal # of chromosomes, but 22 or 14 is carries extra info from 21.
Term

 

 

Non-disjunction

Definition

 

 

failure of chromosomes to separate during meiosis

Term

 

 

mosaic

Definition

 

 

  • non-disjunction can occur during mitotic divisions and only SOME cells will be affected
  • mosaics are less severely affected.
Term

 

 

Trisomy 21 Down Syndrome

Definition

 

  • 95% of cases due to non-disjunction, mainly maternal in origin
  • 5% due to translocation
  • 1% are mosaics
  • Ocular conditions: keratoconus, strabismus, nystagmus
  • Congenital heart disease affects 50% of DS patients
Term

 

 

Trisomy 13 (Patau's Syndrome)

Definition
  • more severe than Down Syndrome
  • death typically occurs by 6 months of age
  • mosaics may survive into adulthood
Term

 

 

XO Turner's Syndrome

Definition
  • XO monosomy
  • Rx w/ growth hormones to achieve normal stature and sex steroids to promote secondary sexual traits
Term

 

Klinfelter's syndrome

Definition

 

  • XXY TRISOMY
  • male but with some female features
  • with the presence of 3-4Y, they have mental retardation
Term

 

 

 

Reduced Penetrance

Definition
  • parents have an abnormal gene but it does not manifest the disease
  • However, these genes can be passed down to children
Term

 

Familial Hypercholesterolemia

Definition
  • AUTOSOMAL DOMINANT
  • defective gene for low-density lipoprotein (LDL) receptor--> LDL is not recycled to the liver and cholesterol cannot be delivered to tissues
  • atherosclerosis, and xanthomas (deposits of LDL w/ macrophages)
Term

 

Marfan Syndrome

Definition
  • AUTOSOMAL DOMINANT
  • defective gene FBN1 on chr. 15, codes for fibrillin 1
  • Sx: subluxation of lens, weak heart valves, tall, long extremities
Term

 

 

Cystic Fibrosis

Definition
  • AUTOSOMAL RECESSIVE
  • aka mucoviscidosis
  • Mutated CFTR gene on chr. 7, codes for protein forming cAMP dependent-chloride transport channel
  • highly viscoid secretions leads to blockages
  • can have recurrent chest infections leading to bronchiectasis
Term

 

 

Hemophilia

Definition
  • X-LINKED RECESSIVE
  • bleeding disorder due to deficiency of clotting factors
  • A severe disease can cause hemarthrosis--hemmorrage in joints leading to deformities
Term

 

 

Phenylketonuria

Definition
  • AUTOSOMAL RECESSIVE
  • deficit of phenylalanine hydroxylase leading to an accumulation of phenylalanine
  • causes lack of pigmentation, musty odor, long term nerve damage
Term

 

 

Muscular Dystrophy

Definition
  • X-LINKED RECESSIVE
  • mutation of the dystrophin gene
  • without dystrophin, muscle cells cannot maintain correct form during contraction
  • 2 Types:
    • Duchenne--very severe, muscle wasting begins in utero
    • Becker's--muscle weakness begins in late childhood

 

 

Term

 

 

Hypophosphatemic osteomalacia

Definition
  • X-LINKED DOMINANT
  • very rare
  • failure of bone mineralization due to defective phosphate resorption in kidney
Term

 

 

 

Leber's hereditary optic neuropathy

Definition
  • MITOCHONDRIAL GENE DISORDER
  • come from maternal line
  • degeneration of optic nerve leading to bilateral loss of central vision.
  • mutation is in the NADH hydrogenase of ETC.
Term

 

 

Fragile X Syndrome

Definition
  • defective FMR1 gene--presence of repeat sequences (ex CAG) prevents transcription of FMR1 gene
  • most common form of hereditary mental retardation in males--short attention span, aggressive behavior
Term

 

 

Multifactorial (polygenic) inheritance

Definition
  • several genes are involved
  • mutations result in predisposition to the disease then environmental factors influence the expression and severity of the disease
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