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Biochemistry- Unit One
Chromosomal Structural Abnormalities (T Pierce)
13
Medical
Post-Graduate
01/30/2009

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Cards

Term
Cause of structural chromosomal abnormalities
Definition
chromosome breakage with subsequent reunion in different configuration
Term
Define balanced recipricol translocation
Definition
  • no loss, gain of genetic info
  • only position change
  • no phenotypic consequences (usually)
  • reproductive consequences
Term
Define unbalanced rearrangement and the different types of it?
Definition
  • loss or gain of chromosomal material (abnormal phenotypic association)
  • different types
    • translocation
    • deletions
    • duplications
Term
Consequences of structural rearrangments
Definition
  • balanced carriers
  • phenotypic risk (low)
  • reproductive risks
    • increase risk of miscarriage
    • increase risk of offspring with
      • mental retardation
        • congenital abnormalities
Term
When can recipricol translocations happen?
Definition
meiotic divisions during crossing over
Term
cause of Xq phenotype
Definition
long arm of chromosome X deleted
Term
Effects of Xq phenotype
Definition
  • similar to Turner's
    • short stature
    • gonad dysgenesis
    • complete ovarian failure (Xq13)
    • premature ovarian failure (Xq24)
Term
Cause of Shprintzen syndrome (VCF)
Definition
microdeletion of chromosome 22
Term
Cuase of Miller Dieker syndrome
Definition
microdeletion of chromosome 17p
Term
Symptoms of Miller-Dieker
Definition
  • lissencephaly
  • hypotonia
Term

Cause of William syndrome

Definition
microdeletion of 17q
Term
Symptoms of Williams syndrome
Definition
  • low IQ
  • relatively good language skills
Term
Clinical indications for chromosome analysis
Definition
  • problems with early growth/dev.
  • stillbirth/neonatal death
  • fertility problems
  • family history of chromosome rearrangements
  • neoplasia
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