ABGC boards exam UPDATED Study
Guide QUESTIONS AND CORRECT
ANSWERS
carries the pregnancy but is not geneticall related to the child - CORRECT
ANSWERS gestational carrier/ surrogate (less preferred term)
Provides egg but does not carry the pregnancy - CORRECT ANSWERS
egg donor
Uses her own egg and carries the pregnancy - CORRECT ANSWERS
Traditional surrogate
Provides genetic material (egg), regardless of who carries or raises the child -
CORRECT ANSWERS biological mother
Severe DD, ID, seizures, microcephaly, gait ataxia - CORRECT ANSWERS
Angelmann
genes expressed in 15q11.2-q13 healthy paternal copy - CORRECT ANSWERS
SNRPN and SNORD116
genes expressed in 15q11.2-q13 healthy maternal copy - CORRECT
ANSWERS UBE3A
feeding issues in PWS - CORRECT ANSWERS infancy: hypotonia,
feeding diffiulties
early childhood/ adulthood: hyperphagia, excessive eating
,GDD, hypogonadism, narrow forehead, almond shaped palpebral features,
feeding difficulties - CORRECT ANSWERS PWS
Can Angelmann or PWS be diagnosed by clinical criteria - CORRECT
ANSWERS Angelmann; 10% no known genetic etiology
undergrowth syndrome, triangular facies, hemihypoplasia, skeletal features,
craniofacial anomalies, feeding difficuties - CORRECT ANSWERS
Russel-silver
overgrowth, macroglossia, hemihyperplasia, omphalocele, increase risk of
embryonal tumors, kidney/cardiac anomalies - CORRECT ANSWERS
BWS
Genes expressed in healthy 11p15 paternal copy - CORRECT ANSWERS
IGF2, OT1
Genes expressed in healthy 11p15 maternal copy - CORRECT ANSWERS
CDKN1C, KCNQ1
what is methylated on healthy maternal copy of 11p15? - CORRECT
ANSWERS IC2
what is methylated on healthy paternal copy of 11p15? - CORRECT
ANSWERS IC1
most common genetic etiology for Russel-silver - CORRECT ANSWERS
loss of methylation of IC1 on paternal copy
,most common genetic etiology for BWS - CORRECT ANSWERS loss
of methylation of IC2
maternal UPD chromosome 7 - CORRECT ANSWERS russell-silver
population carrier frequency of CF - CORRECT ANSWERS 1/25
Mother of an isolated case of an X-linked lethal condition has a ___ chance to
be a carrier - CORRECT ANSWERS 2/3
Sensitivity and specificity are properties of what? - CORRECT ANSWERS
The test itself
PPV and NPV are properties of what? - CORRECT ANSWERS The
population
Sensitivity formula - CORRECT ANSWERS TP / {TP + FN)
Specificity formula - CORRECT ANSWERS TN / (TN + FP)
PPV formula - CORRECT ANSWERS TP / (TP + FP)
NPV formula - CORRECT ANSWERS TN / (TN + FN)
Prevalence formula - CORRECT ANSWERS (TP + FN) / Total
population
, negative predictive value - CORRECT ANSWERS The probability that
a person with a negative test result is truly disease free
positive predictive value - CORRECT ANSWERS The probability that a
person with a positive test result is truly positive
Low prevalence = ___ PPV and ____ NPV - CORRECT ANSWERS
low
high
Test performance described in clinical setting; described in terms of sensitivity,
specificity, positive predictive value, and negative predictive value
Ensuring test is identifying outcome of interest - CORRECT ANSWERS
clinical validity
refers to the risks and benefits resulting from genetic test use - CORRECT
ANSWERS clinical utility
describes accuracy in a Lab setting in terms of being able identify to
consistently identify known positive and negative samples. - CORRECT
ANSWERS analytical validity
High sensitivity = ___ false negatives - CORRECT ANSWERS low
High specificity = ___ false positives - CORRECT ANSWERS low
ideal source of sample for genetic testing after stem cell transplant - CORRECT
ANSWERS skin punch biopsy
Guide QUESTIONS AND CORRECT
ANSWERS
carries the pregnancy but is not geneticall related to the child - CORRECT
ANSWERS gestational carrier/ surrogate (less preferred term)
Provides egg but does not carry the pregnancy - CORRECT ANSWERS
egg donor
Uses her own egg and carries the pregnancy - CORRECT ANSWERS
Traditional surrogate
Provides genetic material (egg), regardless of who carries or raises the child -
CORRECT ANSWERS biological mother
Severe DD, ID, seizures, microcephaly, gait ataxia - CORRECT ANSWERS
Angelmann
genes expressed in 15q11.2-q13 healthy paternal copy - CORRECT ANSWERS
SNRPN and SNORD116
genes expressed in 15q11.2-q13 healthy maternal copy - CORRECT
ANSWERS UBE3A
feeding issues in PWS - CORRECT ANSWERS infancy: hypotonia,
feeding diffiulties
early childhood/ adulthood: hyperphagia, excessive eating
,GDD, hypogonadism, narrow forehead, almond shaped palpebral features,
feeding difficulties - CORRECT ANSWERS PWS
Can Angelmann or PWS be diagnosed by clinical criteria - CORRECT
ANSWERS Angelmann; 10% no known genetic etiology
undergrowth syndrome, triangular facies, hemihypoplasia, skeletal features,
craniofacial anomalies, feeding difficuties - CORRECT ANSWERS
Russel-silver
overgrowth, macroglossia, hemihyperplasia, omphalocele, increase risk of
embryonal tumors, kidney/cardiac anomalies - CORRECT ANSWERS
BWS
Genes expressed in healthy 11p15 paternal copy - CORRECT ANSWERS
IGF2, OT1
Genes expressed in healthy 11p15 maternal copy - CORRECT ANSWERS
CDKN1C, KCNQ1
what is methylated on healthy maternal copy of 11p15? - CORRECT
ANSWERS IC2
what is methylated on healthy paternal copy of 11p15? - CORRECT
ANSWERS IC1
most common genetic etiology for Russel-silver - CORRECT ANSWERS
loss of methylation of IC1 on paternal copy
,most common genetic etiology for BWS - CORRECT ANSWERS loss
of methylation of IC2
maternal UPD chromosome 7 - CORRECT ANSWERS russell-silver
population carrier frequency of CF - CORRECT ANSWERS 1/25
Mother of an isolated case of an X-linked lethal condition has a ___ chance to
be a carrier - CORRECT ANSWERS 2/3
Sensitivity and specificity are properties of what? - CORRECT ANSWERS
The test itself
PPV and NPV are properties of what? - CORRECT ANSWERS The
population
Sensitivity formula - CORRECT ANSWERS TP / {TP + FN)
Specificity formula - CORRECT ANSWERS TN / (TN + FP)
PPV formula - CORRECT ANSWERS TP / (TP + FP)
NPV formula - CORRECT ANSWERS TN / (TN + FN)
Prevalence formula - CORRECT ANSWERS (TP + FN) / Total
population
, negative predictive value - CORRECT ANSWERS The probability that
a person with a negative test result is truly disease free
positive predictive value - CORRECT ANSWERS The probability that a
person with a positive test result is truly positive
Low prevalence = ___ PPV and ____ NPV - CORRECT ANSWERS
low
high
Test performance described in clinical setting; described in terms of sensitivity,
specificity, positive predictive value, and negative predictive value
Ensuring test is identifying outcome of interest - CORRECT ANSWERS
clinical validity
refers to the risks and benefits resulting from genetic test use - CORRECT
ANSWERS clinical utility
describes accuracy in a Lab setting in terms of being able identify to
consistently identify known positive and negative samples. - CORRECT
ANSWERS analytical validity
High sensitivity = ___ false negatives - CORRECT ANSWERS low
High specificity = ___ false positives - CORRECT ANSWERS low
ideal source of sample for genetic testing after stem cell transplant - CORRECT
ANSWERS skin punch biopsy
