Shared Flashcard Set

Details

Biochemistry- Unit One
Chromosomal Abnormality (T Pierce)
15
Medical
Post-Graduate
01/26/2009

Additional Medical Flashcards

 


 

Cards

Term
Fate of most embryos with chromosomal abnormality
Definition
spontaneous abortion
Term
Ratio of babies born with birth defect
Definition
3/100
Term
Methods of fetal testing
Definition
  • amniocentesis
  • fetal cell sorting
  • chronic villus sampling
Term
Define inversion
Definition
segment of chromosomes reversed
Term
Define isochromosome
Definition
chromosome with identical arms
Term
Cause of polyploidy
Definition
  • two sperm fertilize one egg
  • sperm fertilize diploid egg
Term
Complications of Down's syndrom
Definition
  • increase risk of leukemia
  • mental retardation
  • early onset Alzheimers
  • congenital septal defects in heart
  • epicanthal folds
  • brachycephaly
  • flat nasal bridge
  • low set ears
  • short, broad hands with single transverse palmar crease
Term
Symptoms of Klinefelter's syndrome
Definition
  • eunuchoid body with lack of male secondary sex characteristics
  • hypogonadism
  • breast development
  • gynecoid hips
Term

Complications of Turner's syndrome

Definition

Usually, die in womb

  • short stature, webb neck, shield chest
  • primary amenorrhea
  • infertility
  • coarctation of aorta

Can be mosaic (may not have all the symptoms)

Term
Symptoms of XYY syndrome
Definition
  • excessively tall with severe acne
  • increase risk of behavioral problems
Term
Complication and cause of Edwards syndrome
Definition
  • cause- trisomy 18
  • complications
    • intrauterine growth retardation
    • mental retardation
    • cardiac, renal, intestinal defects
    • short sternum
    • small pelvis
    • rocker bottom feet
Term
cause of Patau's syndrome
Definition

trisomy 13

Term
fate of Edwards and Patau syndrome in utero
Definition

usually die in the womb

Term
Ultrasound diagnostic sign of Edward's syndrome
Definition
choroid cyst
Term
Complications of Patau's syndrome
Definition
  • cleft palate/lip
  • polydactyle
  • microcephaly (abnormal brain dev.)
  • cardiac dextroposition, septal defects
Supporting users have an ad free experience!