100+ Free ABMGG Clinical Genetics & Genomics Practice Questions

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A newborn presents with hypotonia, almond-shaped eyes, small hands and feet, and feeding difficulties. Methylation analysis of chromosome 15q11-q13 shows a maternal-only pattern. What is the most likely diagnosis?

Prader-Willi syndrome

Angelman syndrome

Williams syndrome

Smith-Magenis syndrome

to track

2026 Statistics

Key Facts: ABMGG Clinical Genetics & Genomics Exam

150

Specialty Exam Items

ABMGG Testing Process page

3.5 hrs

Specialty Exam Time

ABMGG Testing Process page

100

General Exam Items

ABMGG 2026 Bulletin

$3,000

Total First-Time Cost

ABMGG 2026 Bulletin (review + general + specialty)

Aug 12-15

2026 Exam Dates

ABMGG Dates & Fees page

6 years

Board Eligibility Window

ABMGG Board Eligibility Policy

ABMGG lists the Clinical Genetics and Genomics specialty exam at 150 items in 3.5 hours, plus a separate 100-item general exam in 2 hours. The 2026 combined first-time fees are approximately $3,000 ($775 application review + $1,050 general exam + $1,175 specialty exam). Exams are offered August 12-15, 2026, at Pearson VUE centers worldwide. Candidates need an M.D./D.O. plus completion of an ACGME-accredited medical genetics and genomics residency.

Sample ABMGG Clinical Genetics & Genomics Practice Questions

Try these sample questions to test your ABMGG Clinical Genetics & Genomics exam readiness. Each question includes a detailed explanation. Start the interactive quiz above for the full 100+ question experience with AI tutoring.

1A newborn presents with hypotonia, almond-shaped eyes, small hands and feet, and feeding difficulties. Methylation analysis of chromosome 15q11-q13 shows a maternal-only pattern. What is the most likely diagnosis?

A.Prader-Willi syndrome

B.Angelman syndrome

C.Williams syndrome

D.Smith-Magenis syndrome

Explanation: Prader-Willi syndrome results from loss of the paternal copy of 15q11-q13 genes. Methylation testing showing only a maternal pattern confirms absence of paternal contribution. Angelman syndrome involves loss of the maternal UBE3A allele and presents differently (seizures, ataxia, happy demeanor).

2A 6-month-old infant is found to have trisomy 21 on karyotype. The parents are both 28 years old. Parental karyotypes reveal the mother carries a Robertsonian translocation t(14;21). What is the recurrence risk for trisomy 21 in future pregnancies?

A.1%

B.5%

C.10-15%

D.100%

Explanation: When the mother carries a Robertsonian translocation involving chromosome 21, the empiric recurrence risk for a liveborn child with Down syndrome is approximately 10-15%. If the father is the carrier, the empiric risk is lower (approximately 1-3%). Theoretical segregation risks are higher but empiric data shows lower observed rates.

3Which microdeletion syndrome is characterized by conotruncal cardiac defects, palatal abnormalities, hypocalcemia, T-cell immunodeficiency, and a deletion at 22q11.2?

A.Williams syndrome

B.DiGeorge syndrome / 22q11.2 deletion syndrome

C.Cri du chat syndrome

D.Wolf-Hirschhorn syndrome

Explanation: 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) is the most common microdeletion syndrome (~1/4,000 births) and classically presents with conotruncal heart defects (tetralogy of Fallot, interrupted aortic arch), palatal abnormalities, hypocalcemia from parathyroid hypoplasia, and T-cell deficiency from thymic hypoplasia. The critical gene TBX1 is within the deleted region.

4A 3-year-old boy presents with intellectual disability, a long face, prominent ears, and macroorchidism. His mother is phenotypically normal but has premature ovarian insufficiency. Molecular testing in the mother shows 90 CGG repeats in the FMR1 gene. What is the mother's genetic status?

A.Full mutation carrier

B.Premutation carrier

C.Intermediate (gray zone) allele carrier

D.Homozygous normal

Explanation: FMR1 CGG repeat ranges: normal (<45), intermediate/gray zone (45-54), premutation (55-200), full mutation (>200). The mother's 90 repeats place her in the premutation range. Premutation carriers are at risk for FXTAS and premature ovarian insufficiency. The premutation can expand to a full mutation when transmitted to offspring, which explains the son's Fragile X syndrome.

5A child with Down syndrome phenotype has a karyotype showing 46 chromosomes with a translocation between chromosomes 21 and 21: 46,XX,rob(21;21)(q10;q10),+21. What is the recurrence risk if one parent carries this translocation?

A.0% — no viable offspring with monosomy 21

B.50% — half of offspring will have trisomy 21

C.100% — all viable offspring will have trisomy 21

D.25% — one quarter of offspring affected

Explanation: A rob(21;21) carrier can only produce gametes with two copies of chromosome 21 (via the translocation chromosome) or no chromosome 21. Fertilization yields either trisomy 21 or monosomy 21. Since monosomy 21 is lethal, all viable offspring will have trisomy 21. This is the only Robertsonian translocation with 100% recurrence for a viable affected child.

6Which of the following features is most characteristic of Williams syndrome?

A.Supravalvular aortic stenosis, elfin facies, and hypercalcemia

B.Conotruncal heart defects, thymic aplasia, and hypocalcemia

C.Polydactyly, cystic kidneys, and occipital encephalocele

D.Macrosomia, hemihyperplasia, and embryonal tumors

Explanation: Williams syndrome (7q11.23 microdeletion involving the ELN gene) is characterized by supravalvular aortic stenosis, distinctive elfin facies, hypercalcemia, intellectual disability with a characteristic friendly personality, and visuospatial deficits. The other options describe 22q11.2 deletion syndrome, Meckel-Gruber syndrome, and Beckwith-Wiedemann syndrome respectively.

7A pregnant woman undergoes cell-free DNA screening (NIPT) at 12 weeks gestation, which returns high risk for trisomy 18. What is the recommended next step?

A.No further testing; NIPT is diagnostic

B.Confirm with diagnostic testing (CVS or amniocentesis)

C.Repeat NIPT in 4 weeks

D.Proceed directly to pregnancy termination counseling

Explanation: NIPT is a screening test, not a diagnostic test. A high-risk NIPT result should be confirmed with diagnostic testing such as CVS (first trimester) or amniocentesis (second trimester). False positives can occur due to confined placental mosaicism, maternal copy number variants, or vanishing twin. Confirmatory testing with direct fetal chromosome analysis is essential.

8In the ACMG/AMP variant interpretation framework, which combination of evidence criteria is sufficient to classify a variant as 'Pathogenic'?

A.One strong (PS) and one moderate (PM) criterion

B.One very strong (PVS1) and one moderate (PM) criterion

C.Two supporting (PP) criteria alone

D.One moderate (PM) criterion alone

Explanation: Under the ACMG/AMP 2015 guidelines, pathogenic classification can be achieved through multiple combinations, including 1 very strong (PVS1) + 1 or more moderate (PM) criteria. One strong + one moderate alone is insufficient for pathogenic (it yields likely pathogenic). Two supporting criteria alone are insufficient. The framework uses a tiered evidence system with specific combinatorial rules.

9A 35-year-old woman with a strong family history of breast and ovarian cancer tests positive for a BRCA1 pathogenic variant. Which cancer surveillance measure is recommended starting at age 25?

A.Annual mammography only

B.Breast MRI with contrast annually (mammography added at age 30)

C.Biannual CA-125 screening

D.No screening until age 40

Explanation: NCCN guidelines for BRCA1 carriers recommend annual breast MRI starting at age 25-29 (or individualized based on family history), with the addition of annual mammography starting at age 30. Enhanced screening is warranted due to the high lifetime breast cancer risk (60-80%). CA-125 has limited sensitivity for ovarian cancer screening, and risk-reducing salpingo-oophorectomy is recommended by age 35-40.

10A newborn screening result shows elevated C8-acylcarnitine. What is the most likely metabolic disorder?

A.Phenylketonuria (PKU)

B.Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

C.Maple syrup urine disease (MSUD)

D.Galactosemia

Explanation: Elevated C8 (octanoylcarnitine) on newborn screening tandem mass spectrometry is the hallmark biomarker for MCADD, the most common fatty acid oxidation disorder. MCADD is caused by biallelic pathogenic variants in ACADM. PKU shows elevated phenylalanine, MSUD shows elevated leucine/isoleucine/valine, and galactosemia shows elevated galactose/galactose-1-phosphate.

About the ABMGG Clinical Genetics & Genomics Exam

The ABMGG Clinical Genetics and Genomics specialty exam certifies physician geneticists through 150 multiple-choice items across three 60-minute blocks. Candidates must also pass a separate 100-item general genetics exam. This ABMS-recognized board certification covers dysmorphology, chromosomal disorders, cancer genetics, inborn errors of metabolism, reproductive genetics, diagnostic techniques, and molecular genomics.

Questions

150 scored questions

Time Limit

3 hours 30 minutes

Passing Score

Criterion-referenced (content-expert standard)

Exam Fee

$3,000 (total first-time: $775 review + $1,050 general + $1,175 specialty) (ABMGG / Pearson VUE)

ABMGG Clinical Genetics & Genomics Exam Content Outline

16%

Multiple Malformations/Dysmorphology

Chromosomal aneuploidies, microdeletion/microduplication syndromes, UPD, craniofacial syndromes, overgrowth, congenital abnormalities, teratogens, and disorders of sexual differentiation

11%

Diagnostic Techniques

Arrays (oligo/SNP), karyotype, FISH/MLPA, gene panels, exome/genome sequencing, variant interpretation (ACMG guidelines), and biochemical testing

10%

Intellectual Disability/Autism

Syndromic and nonsyndromic intellectual disability, Fragile X, X-linked disorders, and autism-associated genetic conditions

10%

Inborn Errors of Metabolism

Lysosomal storage disorders, mitochondrial disorders, aminoacidopathies, organic acidurias, fatty acid oxidation defects, urea cycle disorders, and newborn screening

Cancer Genetics

Hereditary cancer syndromes (BRCA, Lynch, Li-Fraumeni), tumor suppressor genes, oncogenes, adult and pediatric cancer predisposition, and surveillance guidelines

Molecular Mechanisms/Genomics

Epigenetics, imprinting, trinucleotide repeats, mosaicism, RNA processing, and emerging genomic applications

Reproductive Genetics

Preconception screening, carrier screening, NIPT, prenatal diagnosis (amniocentesis, CVS), PGT, and teratogen counseling

Cardiovascular Disorders

Marfan syndrome, familial hypercholesterolemia, cardiomyopathies, channelopathies, and connective tissue overlap

Neurogenetic/Neuromuscular & Ophthalmologic Disorders

Muscular dystrophies, CMT, retinoblastoma, retinitis pigmentosa, and other neurogenetic conditions

Pharmacogenomics

CYP450 variants, HLA-drug associations, CPIC guidelines, and clinical pharmacogenomic testing

How to Pass the ABMGG Clinical Genetics & Genomics Exam

What You Need to Know

Passing score: Criterion-referenced (content-expert standard)
Exam length: 150 questions
Time limit: 3 hours 30 minutes
Exam fee: $3,000 (total first-time: $775 review + $1,050 general + $1,175 specialty)

Keys to Passing

Complete 500+ practice questions
Score 80%+ consistently before scheduling
Focus on highest-weighted sections
Use our AI tutor for tough concepts

ABMGG Clinical Genetics & Genomics Study Tips from Top Performers

1Weight your study to the blueprint: dysmorphology (16%), diagnostic techniques (11%), IDD/autism (10%), and inborn errors (10%) together account for nearly half the specialty exam

2Master ACMG/AMP variant classification criteria (benign, likely benign, VUS, likely pathogenic, pathogenic) as this underpins diagnostic technique questions

3Build pattern-recognition for common microdeletion syndromes: 22q11.2, Williams, Prader-Willi, Angelman, Smith-Magenis, and cri du chat

4Know newborn screening panels and follow-up algorithms for PKU, MCAD, galactosemia, congenital hypothyroidism, and sickle cell disease

5Study hereditary cancer syndrome surveillance guidelines for BRCA1/2, Lynch syndrome (MLH1, MSH2, MSH6, PMS2), Li-Fraumeni (TP53), and FAP (APC)

6Review prenatal testing algorithms: when to offer NIPT, CVS, or amniocentesis and how to interpret results including confined placental mosaicism

Frequently Asked Questions

How many questions are on the ABMGG Clinical Genetics and Genomics exam?

The ABMGG Clinical Genetics and Genomics specialty exam has 150 items split into three 60-minute testing blocks of 50 items each. Candidates must also pass a separate 100-item general genetics exam (two 60-minute blocks).

What score do I need to pass the ABMGG Clinical Genetics exam?

ABMGG uses a criterion-referenced passing standard set by content experts who define minimum competency. There is no fixed percentage or scaled score threshold published. You must pass both the general and specialty exams to achieve certification.

How much does the ABMGG Clinical Genetics exam cost in 2026?

For 2026 first-time candidates: $775 application review fee + $1,050 general exam fee + $1,175 specialty exam fee = approximately $3,000 total. A $400 late fee applies after the January 15 deadline. Re-examinees pay a $525 application review fee.

What are the prerequisites for the ABMGG Clinical Genetics exam?

Candidates must hold an M.D., D.O., or equivalent, complete a 2-year ACGME-accredited medical genetics and genomics residency (after at least 1 year of prior clinical training), and hold a valid unrestricted medical license. Training must be completed by July 31, 2026.

When is the 2026 ABMGG Clinical Genetics exam offered?

The 2026 ABMGG certification exams are offered August 12-15, 2026, at Pearson VUE test centers worldwide. Candidates can choose to take the general and specialty exams on the same day or on separate days within the testing window.

What topics are tested on the ABMGG Clinical Genetics specialty exam?

The blueprint covers 24 domains. The highest-weight areas are Multiple Malformations/Dysmorphology (16%), Diagnostic Techniques (11%), Intellectual Disability/Autism (10%), Inborn Errors (10%), Cancer (9%), Molecular Mechanisms/Genomics (8%), and Reproductive Genetics (7%).