PWS testing strategy and condition features - Answer-Methylation will detect 99%
Features: hypotonia, FTT, obesity, hyperphagia, small hands and feet, DD
Angelman and Prader-Willi pneumonic devices - Answer-Moms are Angels = should
have maternal expression of the region
therefore PWS is in a region that typically has paternal expression
Sporadic (85%)
Loss of methylation on maternal chr11p15.5 IC2 (50%)
Paternal UPD11 (7-10%)
Gain of methylation on maternal chr11p15.5 IC1 (5%)
Maternal CDKN1C deletion (40% w/ family hx, 5% w/o) also KCNQ1 gene
Beckwith-Wiedemann syndrome testing strategy and condition features - Answer-
Order methylation first, then CDKN1C sequencing and del/dup
Loss of methylation on paternal chr11p15.5 IC1 (35-50%)
Maternal UPD7 (10%)
, Russell-Silver testing strategy and condition features - Answer-Order methylation
first, then UPD studies
Features: triangular facies, IUGR, poor post-natal growth, short stature, body
asymmetry
causes and implications of cystic placenta - Answer-Partial molar pregnancy-
triploidy
Triploidy is incompatible with life
High risk First trimester screen for T21 values (high or low) - Answer-high hCG, low
PAPP-A
(know what MoM curve looks like for all screen results too)
High risk First trimester screen for T18 values (high or low) - Answer-low hCG, low
PAPP-A
High risk Second trimester screen for T21 values (high or low) - Answer-high hCG,
high inhibin-A, low AFP, low uE3
High risk Second trimester screen for T18 values (high or low) - Answer-low hCG,
low AFP, low uE3
Genotype of Partial mole? - Answer-triploidy (digyny- 69, XXX or diandry- 69 XXY)
Genotype of complete hydatidiform mole? - Answer-paternal UPD of all
chromosomes
Genotype of ovarian teratoma? - Answer-maternal UPD of all chromosomes
Testing strategy/what will be found for cystic fibrosis dx - Answer-Elevated
trypsinogen on NBS followed by genetic mutation analysis (most NBS is genotyping)
**Gold standard: Confirm w/ sweat test elevated >60 u/L
genetic testing: if 1 variant - do del/dup (possibility for UPD) and if no variants found
possibly other disorder
Testing strategy/what will be found for sickle cell dx - Answer-Hemoglobin
electrophoresis, genetic testing not necessary
Will see elevated HbS
Testing strategy/what will be found for FAOD (fatty acid oxidation) dx - Answer-
acylcarnitine profile, PAA (phenylalanine deaminase test), UOA
Testing strategy/what will be found for maple syrup urine disease (MSUD) dx -
Answer-PAA- elevated leucine, isoleucine, valine
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