ABMGG Clinical Genetics & Genomics case studies
ABMGG Clinical Genetics & Genomics · Put your knowledge to work in context.
The ABMGG Clinical Genetics and Genomics credential is issued by the American Board of Medical Genetics and Genomics, whose stated mission is "to serve the public and medical profession by establishing professional certification standards and promoting lifelong learning as well as excellence in medical genetics and genomics." It is an initial certification credential for genetics professionals who complete ABMGG's certification pathway in this specialty, and it is separate from the continuing certification program that diplomates maintain afterward through components such as the CertLink longitudinal assessment. This study platform is independent and is not affiliated with, endorsed by, or sponsored by ABMGG. The ABMGG Clinical Genetics & Genomics case studies are 5 cases and about 2,449 words.
1An In-Frame LMNA Deletion, Sudden Death, and a Pacemaker: When a VUS Meets a Family History
A 34-year-old man is evaluated for dilated cardiomyopathy (ejection fraction 30%) with no ischemic, toxic, or viral explanation. A 12-gene cardiomyopathy panel reports a heterozygous in-frame deletion in LMNA, removing one conserved residue in the rod domain.
551 words, about 3 min2Mosaic Trisomy 21 at CVS With a Normal Amniocentesis
A 36-year-old G2P1 woman undergoes chorionic villus sampling at 12 weeks for advanced maternal age. The direct cytogenetic preparation shows 47,XX,+21[6]/46,XX[14]; long-term culture confirms mosaicism.
508 words, about 3 min3A Well Newborn With Elevated C5-OH: Is the Baby or the Mother Affected?
A term male newborn is well at discharge. Newborn screening at 36 hours shows C5-OH acylcarnitine 1.8 µmol/L (reference <0.8) and C5:1 0.2.
454 words, about 2 min4A Negative BRCA1 Test in a Woman With Early-Onset Triple-Negative Breast Cancer
A 38-year-old woman is diagnosed with triple-negative breast cancer. Her mother had high-grade serous ovarian cancer at 52 and carries a pathogenic BRCA1 variant (c.5266dupC).
494 words, about 2 min5An Adult-Onset BRCA2 Finding in a Child’s Exome
A 7-year-old boy with global developmental delay and epilepsy undergoes trio exome sequencing. The report identifies a pathogenic BRCA2 frameshift variant inherited from his 45-year-old father, plus a de novo pathogenic variant in a neurodevelopmental gene that explains his phenotype.
442 words, about 2 min