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22 Cards in this Set

  • Front
  • Back
Products of conception (POC)
Mixture of amnion, chorion, villi, and fetal tissue after loss
Chrom Abnormalities not seen in peripheral blood
+20, +7, i(12p)
Agent that Stimulates Cell Division for mature T cells
Agent that Stimulates Cell Division for B and T cells
- Agent that blocks in Metaphase
- poisons spindle
Ethidium bromide
Lengthening Agent
Actinomycin D
Lengthening Agent
Robertsonian translocation
Less common Robertsonians
der(13;21); (15;21), (21;22)
Trisomy 13 mosaics and robersonian
- (47,XY,+13/46,XY)
- 13, 14, the most common in man
Edward syndrome genetics
- 80% trisomy 18 w/ low RR (<1%) – a few mosaics – 20% translocation, most w/ partial trisomy 18
Turner syndrome genetics
– 50% are 45,X – The rest have 1) structurally abnormal sex chromosome
– 2) Mosaicism for a normal or abnormal cell line
– Risk of gonadoblastoma if Y bearing cell line present – do prophylactic gonad removal
Turner Syndrome Incidence
1 in 2000-5000 female live births, 1-2% of all conceptions, 6-7% of all SABs
Turner Syndrome labs
- Karyotyping
- Peripheral blood karyotype
- extended analysis may be needed to detect mosaicism
What does Southern Blot detect?
gene deletions, rearrangements or amplifications
What are southern blot limitations
– Requires enough DNA (~10 mg) that getting an adequate sample from a newborn can be hard
– Sensitivity of ~10% which is relevant in the context of mosaicism
– Labor intensive
What does PCR do?
- annealing of oligonucleotides (the primers) to the target DNA
– Real time or quantitative PCR uses a sequence specific probe, in addition to the primers
PCR on hetero w/ w/ an interfering sequence variant on the normal allele
will be incorrectly interpreted to be homo
PCR on hetero w/ w/ an interfering sequence variant on the mutant allele
will be incorrectly interpreted to be negative for the mutation
Sequence variants w/in the PCR primer and/or the sequencing primer
can prevent amp of the allele w/ the variant
A deletion within a primer region
will prevent amp of the allele w/ the deletion
A sequence result that is falsely (-) for a mutation could be from
a sequence variant or deletion w/in primer region