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11 Cards in this Set

  • Front
  • Back

What weeks / embryonic stage is organogenesis

Weeks 3-10


Teratogens most likely to disrupt organs at this stage. Prior to this teratogens tend to kill or not affect the fetus

In X-links conditions are males or females more affected, and what proportion?

Male


Female carrier = half of males affected


Male carrier = all males normal and all females carriers (males inherit the Y😃

Name at least one X linked dominant condition

X-linked hypophosphataemic rickets


Incontinentia pigmenti (lethal in males, as most X linked dominant are)

No females affected in a pedigree, what’s the likely mode of inheritance?

X linked recessive

Mostly males affected in a pedigree - what’s the inheritance

X linked recessive

Mostly females affected in a pedigree with no males - what’s the inheritance?

X linked dominant - such as X linked hypophosphataemic rickets or incontinentia pigmenti

Males and females affected equally in a pedigree - what’s the possible mode of inheritance?

AD or AR

Maternal inheritance only - males and females equally affected. What’s the mode of inheritance?

Mitochondrial inheritance - only inherited by maternal lines but affect male and female offspring equally

Name conditions associated with mitochondrial inheritance?

MELAS and MERFF - spread only maternally but affect male and female offspring equally

How many pairs of chromosomes are there?

23. One of those is sex chromosomes

How many pairs of autos ones are there?

22 - one pair of sex