ABGC BOARDS FINAL PAPER 2025/2026 QUESTIONS WITH
ANSWERS GRADED A+
✔✔Noonan Syndrome - ✔✔AD, PTPN11 (50%), SOS1, KRAS, RAF1.
Clin feats: short stature, CHD (pulmonary valve stenosis, HCM, ASD, VSD, TOF),
broad/webbed neck, pectus deformities, DD, characteristic facies, eye abnorms,
predisposed to JMML.
Prenatal US findings: plyhydramnios, increasead NT/cystic hygroma, cardiac/renal
anoms.
✔✔Noonan Syndrome w/ Multiple Lentigines (LEOPARD syndrome) - ✔✔AD, PTPN11
(90%), RAF1, BRAF.
Clin feats: Lentigines (flat brown spots, mostly on face, neck, upper trunk, appear ~5yo),
HCM, short stature, pectus deformity, facies (hypertelorism, ptosis), SNHL, mild ID.
✔✔Williams Syndrome - ✔✔AD, 7q11.23 contiguous gene deletion (including ELN
gene). Mostly de novo.
Clin feats: CVD (elastin arteriopathy, supravalvular aortic stenosis, HTN), distinctive
facies, connective tissue abnorms (hernias, diverticulae, rectal prolapse, joint laxity),
mild ID, "cocktail" personality, short stature, endocrine abnorms.
✔✔Cri du Chat Syndrome - ✔✔5p-, mostly de novo, mostly paternal origin. Affects
females > males.
Clin feats: 'Cat's cry' as newborn, characteristic facies (round face, micrognathia),
microcephaly, psychomotor delays, speeth delay, ID, prone to otitis media and HL, CHD
(mostly patent ductus arteriosus).
✔✔Fryns Syndrome - ✔✔AR, PIGN gene.
Clin feats: diaphragmatic defects (hernia, hypoplasia, agenesis), characteristic facies
(coarse, wideset eyes, wide mouth, small jaw), pulmonary hypoplasia, orofacial clefting,
malforms of kidney, brain, cardiovasc sys, GI sys, genitalia, servere DD/ID. Most die in
neonatal period.
✔✔Greig Cephalopolysyndactyly Syndrome - ✔✔AD, GLI3 variants (80%) or 7p14.1del
(20%). GLI3 encodes TF in sonic hedgehog (SHH) pathway. Incomplete penetrance.
Clin feats: macrocephaly, wideset eyes, preaxial polydactyly, syndactyly. Larger
deletions can have ID, seizures, CNS abnorms.
Geno-pheno corrs: some GLI3 variants cause Pallister Hall synd.
✔✔VACTERL (VATER) Association - ✔✔unknown genetic cause.
Vertebral anoms, Anal atresia, Cardiac anoms, TracheoEsophageal fistula, Renal
anoms, Limb anoms. Need at least 3 of these for dx.
✔✔Wolf-Hirschhorn Syndrome - ✔✔AD, 4p-. 90% de novo.
Clin feats: 'Greek helmet' face, growth delay, DD, ID, hypotonia, seizures, ataxia, CHD.
,✔✔Joubert syndrome - ✔✔AR (33 genes) or XL (OFD1). Ciliopathy.
Clin feats: 3 primary feats: molar tooth sign, hypotonia, DD/ID. Also abnormal breathing,
eye mvmt, renal disease, occipital encephalocele, polydactyly, cleft L/P. Severe cases
die in childhood.
✔✔Kabuki Syndrome - ✔✔AD, KMT2D (75%) or XL, KDM6A. High de novo.
Clin feats: typical facies (arched brow w/ sparseness, long palpebral fissures, short
nose, large cupped ears), skeletal anoms (esp spinal, brachydactyly), persistence of
fetal fingertip pads, mild-mod ID, postnatal growth deficiency, CHD, cleft L/P, GI/GU
anoms, seizures, autoimmune issues.
✔✔Monosomy 1p36 - ✔✔1p36 ter del. mostly de novo.
Clin feats: hypotonia, dysphagia, severe ID/DD, speech/behavioral problems, brain
abnorms, seizures, growth delay, microcephaly (wide/short), orofacial clefting, typical
facies (deepset eyes, horizontal eyebrows, midface hypoplasia, pointed chin)
✔✔Prader-Willi Syndrome - ✔✔lack of paternally-derived copy of 15q11.2-q13 (incl
SNRPN).
-70% due to paternal deletion, 25% due to maternal UPD.
Methylation analysis is best test.
Clin feats: severe hypotonia/feeding issues in infancy -> excessive eating/obesity later,
DD, delayed language, behavioral issues (tantrums, stubborn, OCD), hypogonadism
(infertile), short stature, facies, sleep abnorms.
✔✔Angelman Syndrome - ✔✔lack of maternally derived UBE3A gene on 15q11.2-q13.
-68% due to maternal deletion, 11% due to mutation, 7% due to paternal UPD.
Methylation analysis then UBE3A seq.
Clin feats: severe DD/ID/speech impairment, gait ataxia, tremors, behavior (happy,
laughing, excitable w/ hand flapping), microcephaly, seizures, sleep issues, GI issues.
✔✔Rubinstein-Taybi Syndrome - ✔✔AD, CREBBP or EP300, mostly de novo.
Clin feats: facies (downslanting palpebral fissures, low columella, grimacing smile),
broad thumbs/haluces, short stature, mod-severe ID, ocular anoms, CHD.
✔✔Smith-Magenis Syndrome - ✔✔AD, 17p11.2 del including RAI1 or RAI1 variant.
Mostly de novo.
CMA then RAI1 seq.
Clin feats: facies (brachycephaly, broad forehead, upturned nose, deepset eyes,
upslanting palpebral fissures, pudgy cheeks), DD, ID, behaviors (self injury, avoidance,
repetitiveness, hyperactivity, tantrums, aggresion, self-hugging), childhood onset
obesity, hypotonia and lethargy as infant.
✔✔Antley-Bixler syndrome - ✔✔AR - POR, or AD - FGFR2 (mostly de novo).
· Cytochrome P450 oxidoreductase (POR) deficiency -> impaired steroidogenesis.
, Clin feats: craniosynostosis, midface hypoplasia, radiohumeral fusion, femoral bowing,
joint contractures, choanal atresia. Most die in infancy due to resp/medullary
complications.
✔✔Bardet-Biedl Syndrome - ✔✔AR, 26 genes: 25% BBS1.
Ciliopathy.
Clin feats: retinal cone-rod dystrophy, obesity, polydactyly, cog impairment,
hypogonadism, GU and renal malforms.
✔✔Branchiootorenal Syndrome - ✔✔AD, EYA1 (40%), SIX1, SIX5. Only 10% de novo,
100% penetrant.
Clin feats: Malforms of ear and HL, periauricular pits/tags, branchial fistulae/cysts, renal
malforms (hypoplasia, agenesis, ESRD).
✔✔CHARGE Syndrome - ✔✔AD, CHD7, mostly de novo.
Coloboma, Heart defect, Atresia (choanal), Retardation (growth and dev), Genital
hypoplasia, Ear anoms (incl deafness).
✔✔Coffin-Lowry Syndrome - ✔✔XL, RPS6KA3.
Clin feats: ID, behavioral issues, progressive spasticity/paraplegia, sleep apnea, stroke,
drop attacks, facies, short, fleshy hands/forearms, progressive kyphoscoliosis, pectus
deformities, microcephaly, short stature.
✔✔Cornelia de Lange Syndrome - ✔✔AD - NIPBL (80%, mostly de novo), and others,
or XL.
Clin feats: variable severity, facies (unibrow, log lashes, microcephaly), DD, ID, self-
destructive, upper limb reduction defects, GERD.
✔✔Transference - ✔✔unconscious way that a client relates to the genetic counselor
based on her or his history of relating to others.
Ex: A common transference experience occurs when patients have a frustrating
commute into the appointment - they may direct their anger/frustrations toward the
counselor by acting hostile/defensive
✔✔Countertransference - ✔✔GC's unconscious way of relating to clients based on the
counselor's history of relating to others. Can occur when GC has extreme
overidentification or disidentification with the patient.
2 types: projective identification and associative countertransference
✔✔projective identification - ✔✔a type of countertransference: when you mistakenly
believe that your feelings are your client's feelings. also occurs whenever you have the
misperception that you understand exactly what a client is going through because you
have had the same or a similar experience
ANSWERS GRADED A+
✔✔Noonan Syndrome - ✔✔AD, PTPN11 (50%), SOS1, KRAS, RAF1.
Clin feats: short stature, CHD (pulmonary valve stenosis, HCM, ASD, VSD, TOF),
broad/webbed neck, pectus deformities, DD, characteristic facies, eye abnorms,
predisposed to JMML.
Prenatal US findings: plyhydramnios, increasead NT/cystic hygroma, cardiac/renal
anoms.
✔✔Noonan Syndrome w/ Multiple Lentigines (LEOPARD syndrome) - ✔✔AD, PTPN11
(90%), RAF1, BRAF.
Clin feats: Lentigines (flat brown spots, mostly on face, neck, upper trunk, appear ~5yo),
HCM, short stature, pectus deformity, facies (hypertelorism, ptosis), SNHL, mild ID.
✔✔Williams Syndrome - ✔✔AD, 7q11.23 contiguous gene deletion (including ELN
gene). Mostly de novo.
Clin feats: CVD (elastin arteriopathy, supravalvular aortic stenosis, HTN), distinctive
facies, connective tissue abnorms (hernias, diverticulae, rectal prolapse, joint laxity),
mild ID, "cocktail" personality, short stature, endocrine abnorms.
✔✔Cri du Chat Syndrome - ✔✔5p-, mostly de novo, mostly paternal origin. Affects
females > males.
Clin feats: 'Cat's cry' as newborn, characteristic facies (round face, micrognathia),
microcephaly, psychomotor delays, speeth delay, ID, prone to otitis media and HL, CHD
(mostly patent ductus arteriosus).
✔✔Fryns Syndrome - ✔✔AR, PIGN gene.
Clin feats: diaphragmatic defects (hernia, hypoplasia, agenesis), characteristic facies
(coarse, wideset eyes, wide mouth, small jaw), pulmonary hypoplasia, orofacial clefting,
malforms of kidney, brain, cardiovasc sys, GI sys, genitalia, servere DD/ID. Most die in
neonatal period.
✔✔Greig Cephalopolysyndactyly Syndrome - ✔✔AD, GLI3 variants (80%) or 7p14.1del
(20%). GLI3 encodes TF in sonic hedgehog (SHH) pathway. Incomplete penetrance.
Clin feats: macrocephaly, wideset eyes, preaxial polydactyly, syndactyly. Larger
deletions can have ID, seizures, CNS abnorms.
Geno-pheno corrs: some GLI3 variants cause Pallister Hall synd.
✔✔VACTERL (VATER) Association - ✔✔unknown genetic cause.
Vertebral anoms, Anal atresia, Cardiac anoms, TracheoEsophageal fistula, Renal
anoms, Limb anoms. Need at least 3 of these for dx.
✔✔Wolf-Hirschhorn Syndrome - ✔✔AD, 4p-. 90% de novo.
Clin feats: 'Greek helmet' face, growth delay, DD, ID, hypotonia, seizures, ataxia, CHD.
,✔✔Joubert syndrome - ✔✔AR (33 genes) or XL (OFD1). Ciliopathy.
Clin feats: 3 primary feats: molar tooth sign, hypotonia, DD/ID. Also abnormal breathing,
eye mvmt, renal disease, occipital encephalocele, polydactyly, cleft L/P. Severe cases
die in childhood.
✔✔Kabuki Syndrome - ✔✔AD, KMT2D (75%) or XL, KDM6A. High de novo.
Clin feats: typical facies (arched brow w/ sparseness, long palpebral fissures, short
nose, large cupped ears), skeletal anoms (esp spinal, brachydactyly), persistence of
fetal fingertip pads, mild-mod ID, postnatal growth deficiency, CHD, cleft L/P, GI/GU
anoms, seizures, autoimmune issues.
✔✔Monosomy 1p36 - ✔✔1p36 ter del. mostly de novo.
Clin feats: hypotonia, dysphagia, severe ID/DD, speech/behavioral problems, brain
abnorms, seizures, growth delay, microcephaly (wide/short), orofacial clefting, typical
facies (deepset eyes, horizontal eyebrows, midface hypoplasia, pointed chin)
✔✔Prader-Willi Syndrome - ✔✔lack of paternally-derived copy of 15q11.2-q13 (incl
SNRPN).
-70% due to paternal deletion, 25% due to maternal UPD.
Methylation analysis is best test.
Clin feats: severe hypotonia/feeding issues in infancy -> excessive eating/obesity later,
DD, delayed language, behavioral issues (tantrums, stubborn, OCD), hypogonadism
(infertile), short stature, facies, sleep abnorms.
✔✔Angelman Syndrome - ✔✔lack of maternally derived UBE3A gene on 15q11.2-q13.
-68% due to maternal deletion, 11% due to mutation, 7% due to paternal UPD.
Methylation analysis then UBE3A seq.
Clin feats: severe DD/ID/speech impairment, gait ataxia, tremors, behavior (happy,
laughing, excitable w/ hand flapping), microcephaly, seizures, sleep issues, GI issues.
✔✔Rubinstein-Taybi Syndrome - ✔✔AD, CREBBP or EP300, mostly de novo.
Clin feats: facies (downslanting palpebral fissures, low columella, grimacing smile),
broad thumbs/haluces, short stature, mod-severe ID, ocular anoms, CHD.
✔✔Smith-Magenis Syndrome - ✔✔AD, 17p11.2 del including RAI1 or RAI1 variant.
Mostly de novo.
CMA then RAI1 seq.
Clin feats: facies (brachycephaly, broad forehead, upturned nose, deepset eyes,
upslanting palpebral fissures, pudgy cheeks), DD, ID, behaviors (self injury, avoidance,
repetitiveness, hyperactivity, tantrums, aggresion, self-hugging), childhood onset
obesity, hypotonia and lethargy as infant.
✔✔Antley-Bixler syndrome - ✔✔AR - POR, or AD - FGFR2 (mostly de novo).
· Cytochrome P450 oxidoreductase (POR) deficiency -> impaired steroidogenesis.
, Clin feats: craniosynostosis, midface hypoplasia, radiohumeral fusion, femoral bowing,
joint contractures, choanal atresia. Most die in infancy due to resp/medullary
complications.
✔✔Bardet-Biedl Syndrome - ✔✔AR, 26 genes: 25% BBS1.
Ciliopathy.
Clin feats: retinal cone-rod dystrophy, obesity, polydactyly, cog impairment,
hypogonadism, GU and renal malforms.
✔✔Branchiootorenal Syndrome - ✔✔AD, EYA1 (40%), SIX1, SIX5. Only 10% de novo,
100% penetrant.
Clin feats: Malforms of ear and HL, periauricular pits/tags, branchial fistulae/cysts, renal
malforms (hypoplasia, agenesis, ESRD).
✔✔CHARGE Syndrome - ✔✔AD, CHD7, mostly de novo.
Coloboma, Heart defect, Atresia (choanal), Retardation (growth and dev), Genital
hypoplasia, Ear anoms (incl deafness).
✔✔Coffin-Lowry Syndrome - ✔✔XL, RPS6KA3.
Clin feats: ID, behavioral issues, progressive spasticity/paraplegia, sleep apnea, stroke,
drop attacks, facies, short, fleshy hands/forearms, progressive kyphoscoliosis, pectus
deformities, microcephaly, short stature.
✔✔Cornelia de Lange Syndrome - ✔✔AD - NIPBL (80%, mostly de novo), and others,
or XL.
Clin feats: variable severity, facies (unibrow, log lashes, microcephaly), DD, ID, self-
destructive, upper limb reduction defects, GERD.
✔✔Transference - ✔✔unconscious way that a client relates to the genetic counselor
based on her or his history of relating to others.
Ex: A common transference experience occurs when patients have a frustrating
commute into the appointment - they may direct their anger/frustrations toward the
counselor by acting hostile/defensive
✔✔Countertransference - ✔✔GC's unconscious way of relating to clients based on the
counselor's history of relating to others. Can occur when GC has extreme
overidentification or disidentification with the patient.
2 types: projective identification and associative countertransference
✔✔projective identification - ✔✔a type of countertransference: when you mistakenly
believe that your feelings are your client's feelings. also occurs whenever you have the
misperception that you understand exactly what a client is going through because you
have had the same or a similar experience
