Misc. 3 Flashcards
What percentage of male infertility is accounted for by chromosomal abnormalities?
5%
What are the 4 chromosomes involved in Robertsonian translocation Down syndrome (along with 21)?
14, 22, 13, 15
If a woman has a 14;21 Robertsonian translocation, what is the risk to have a liveborn baby with T21?
10%
If a man has a 14;21 Robertsonian translocation, what is the risk to have a liveborn baby with T21?
2.5%
What percentage of prelingual hearing loss has a genetic origin?
50 - 60%
Is prelingual hearing loss more commonly of AD or AR inheritance?
AR
Is postlingual hearing loss more commonly of AD or AR inheritance?
AD
Is genetic hearing loss usually syndromic or non-syndromic?
non-syndromic (70% of cases)
Tetralogy of Fallot
features
cause(s)
CHD w/4 defects and cyanosis
- VSD
- pulmonary stenosis
- right ventricular hypertrophy
- overriding aorta
- more common with T21 and DiGeorge
marker chromosome
a small chromosome containing a centromere which often exists in a mosaic state and may or may not create an imbalance and result in abnormalities
pleiotropy
when one gene influences multiple, seemingly unrelated, phenotypic traits
Caudal regression on ultrasound is most likely indicative of:
maternal diabetes
Which conditions involve CAG repeat expansion?
- Huntington’s
- Spinocerebellar ataxia
Fragile X repeat
CGG
Myotonic dystrophy repeat
CTG
Friedrich repeat
GAA
Which of the repeat disorders involve the coding region of a gene?
- Huntington’s
- Spinocerebellar ataxia
What is the pattern of PAPP-A throughout pregnancy?
starts at week 8, rises throughout
What is the pattern of hCG throughout pregnancy?
increases early, decreases over weeks 10-20
What is the pattern of uE3 throughout pregnancy?
rises throughout
What is the pattern of INH throughout pregnancy?
constant over weeks 15-20
What is the pattern of AFP throughout pregnancy?
increases until week 30-32, then decreases
Which analyte is decreased by smoking?
uE3
Which analyte is increased in diabetics and the overweight?
AFP