ABGC Boards Exam Practice Questions and
Answers 100% Pass
Angelman Syndrome causes (expression and % of total) - ✔✔**paternal imprinting defect, should be
maternal expression
5-7 kb deletion on maternal chr15q11.2-13 (60-70%)
UBE3A maternal deletion (11%)
Paternal UPD15 (3-7%)
Angelman testing strategy and condition features - ✔✔methylation first since finds ~80% of cases then
UBE3A seq and del/dup
features: happy demeanor, abnormal gait, seizures, delayed/absent speech
Prader-Willi Syndrome causes (expression and % of total) - ✔✔**maternal imprinting defect, should be
paternal expression of region
5-6 kb deletion on paternal chr15q11.2-13 (60-70%)
Deletion involves SNRPN gene
Maternal UPD15 (20-30%)
PWS testing strategy and condition features - ✔✔Methylation will detect 99%
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,Features: hypotonia, FTT, obesity, hyperphagia, small hands and feet, DD
Angelman and Prader-Willi pneumonic devices - ✔✔Moms are Angels = should have maternal
expression of the region
therefore PWS is in a region that typically has paternal expression
Beckwith-Wiedemann syndrome causes (imprinting and % breakdown) - ✔✔**paternal imprinting,
maternally expressed
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 - ✔✔Order methylation first,
then CDKN1C sequencing and del/dup
Features: overgrowth, macroglossia, omphalocele, ear pits, Wilms tumor
Russell-Silver syndrome causes (imprinting and % breakdown) - ✔✔*maternal imprinting, paternal
expression
Loss of methylation on paternal chr11p15.5 IC1 (35-50%)
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, Maternal UPD7 (10%)
Russell-Silver testing strategy and condition features - ✔✔Order methylation first, then UPD studies
Features: triangular facies, IUGR, poor post-natal growth, short stature, body asymmetry
causes and implications of cystic placenta - ✔✔Partial molar pregnancy- triploidy
Triploidy is incompatible with life
High risk First trimester screen for T21 values (high or low) - ✔✔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) - ✔✔low hCG, low PAPP-A
High risk Second trimester screen for T21 values (high or low) - ✔✔high hCG, high inhibin-A, low AFP,
low uE3
High risk Second trimester screen for T18 values (high or low) - ✔✔low hCG, low AFP, low uE3
Genotype of Partial mole? - ✔✔triploidy (digyny- 69, XXX or diandry- 69 XXY)
Genotype of complete hydatidiform mole? - ✔✔paternal UPD of all chromosomes
Genotype of ovarian teratoma? - ✔✔maternal UPD of all chromosomes
Testing strategy/what will be found for cystic fibrosis dx - ✔✔Elevated trypsinogen on NBS followed by
genetic mutation analysis (most NBS is genotyping)
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Answers 100% Pass
Angelman Syndrome causes (expression and % of total) - ✔✔**paternal imprinting defect, should be
maternal expression
5-7 kb deletion on maternal chr15q11.2-13 (60-70%)
UBE3A maternal deletion (11%)
Paternal UPD15 (3-7%)
Angelman testing strategy and condition features - ✔✔methylation first since finds ~80% of cases then
UBE3A seq and del/dup
features: happy demeanor, abnormal gait, seizures, delayed/absent speech
Prader-Willi Syndrome causes (expression and % of total) - ✔✔**maternal imprinting defect, should be
paternal expression of region
5-6 kb deletion on paternal chr15q11.2-13 (60-70%)
Deletion involves SNRPN gene
Maternal UPD15 (20-30%)
PWS testing strategy and condition features - ✔✔Methylation will detect 99%
Page 1/18
Crafted for Academic Insight by KatelynWhitman. All rights reserved © 2025
,Features: hypotonia, FTT, obesity, hyperphagia, small hands and feet, DD
Angelman and Prader-Willi pneumonic devices - ✔✔Moms are Angels = should have maternal
expression of the region
therefore PWS is in a region that typically has paternal expression
Beckwith-Wiedemann syndrome causes (imprinting and % breakdown) - ✔✔**paternal imprinting,
maternally expressed
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 - ✔✔Order methylation first,
then CDKN1C sequencing and del/dup
Features: overgrowth, macroglossia, omphalocele, ear pits, Wilms tumor
Russell-Silver syndrome causes (imprinting and % breakdown) - ✔✔*maternal imprinting, paternal
expression
Loss of methylation on paternal chr11p15.5 IC1 (35-50%)
Page 2/18
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, Maternal UPD7 (10%)
Russell-Silver testing strategy and condition features - ✔✔Order methylation first, then UPD studies
Features: triangular facies, IUGR, poor post-natal growth, short stature, body asymmetry
causes and implications of cystic placenta - ✔✔Partial molar pregnancy- triploidy
Triploidy is incompatible with life
High risk First trimester screen for T21 values (high or low) - ✔✔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) - ✔✔low hCG, low PAPP-A
High risk Second trimester screen for T21 values (high or low) - ✔✔high hCG, high inhibin-A, low AFP,
low uE3
High risk Second trimester screen for T18 values (high or low) - ✔✔low hCG, low AFP, low uE3
Genotype of Partial mole? - ✔✔triploidy (digyny- 69, XXX or diandry- 69 XXY)
Genotype of complete hydatidiform mole? - ✔✔paternal UPD of all chromosomes
Genotype of ovarian teratoma? - ✔✔maternal UPD of all chromosomes
Testing strategy/what will be found for cystic fibrosis dx - ✔✔Elevated trypsinogen on NBS followed by
genetic mutation analysis (most NBS is genotyping)
Page 3/18
Crafted for Academic Insight by KatelynWhitman. All rights reserved © 2025
