How to use this deck

Medical genetics rewards precise recall: a small change in wording can change an inheritance risk, the interpretation of a variant or the test you choose. This deck covers common foundations across clinical and biomedical genetics. It is not a substitute for checking the guidance used by your course or local service, particularly for variant interpretation and testing pathways.

Work through the cards as active recall, not as a list to reread. Read the question, state the answer before revealing it, then compare your response with the answer. Grade honestly: choose Again if you could not retrieve it; Hard if the answer was incomplete or slow; Good if it was accurate without help; and Easy if it came readily and precisely. A correct answer with a missing condition or qualifier is not automatically a Good.

In MySummaries, a deck from a medical genetics revision board can be worked through one card at a time. Start with the inheritance patterns, then test yourself on what each laboratory method can and cannot detect.

A deck for a first-pass review looks like this:

Cards — Medical Genetics — inheritance, variants and tests18 due

For each pregnancy, what is the chance of an affected child when one parent is heterozygous for an autosomal dominant pathogenic variant and the other does not carry it?

50%; each pregnancy is an independent event.

All 18 cards
For each pregnancy, what is the chance of an affected child when one parent is heterozygous for an autosomal dominant pathogenic variant and the other does not carry it?50%; each pregnancy is an independent event.
Two heterozygous carriers of the same autosomal recessive condition have a child. What are the risks for each pregnancy?25% affected, 50% carrier and 25% unaffected non-carrier, assuming the same familial variant and standard segregation.
An affected father has a typical X-linked recessive condition. Which children inherit his X chromosome?All daughters inherit his X chromosome; no sons inherit it. Sons inherit his Y chromosome.
What is the usual inheritance rule for mitochondrial DNA variants?Maternal transmission: an affected mother can transmit a mitochondrial variant; an affected father does not usually transmit mitochondrial DNA to children.
Define penetrance.The proportion of people with a particular genotype who show the associated phenotype.
Define variable expressivity.Variation in the type or severity of features among people with the same disease-associated genotype.
What does genetic anticipation mean?Earlier onset or increased severity across generations, often associated with unstable expansion of a repeat sequence.
Loss of expression from which parental chromosome is associated with Prader–Willi syndrome and Angelman syndrome at 15q11–q13?Prader–Willi: loss of paternally expressed genes. Angelman: loss of maternal UBE3A expression in neurons.
What is somatic mosaicism?Two or more genetically distinct cell populations in one individual, arising from a post-zygotic genetic change.
Name the five ACMG/AMP sequence-variant classification categories.Pathogenic, likely pathogenic, uncertain significance, likely benign and benign.
How should a variant of uncertain significance be used in clinical decision-making?Do not use a VUS alone to make clinical management or predictive testing decisions. Reassess it with phenotype, family data and any later classification evidence.
What is a typical strength of Sanger sequencing compared with broad next-generation sequencing?Targeted sequencing of a specific region, useful for focused analysis or confirmation; it does not survey many genes in parallel in the way a panel can.
What does a chromosomal microarray commonly detect, and what is a key limitation?Genome-wide copy-number gains and losses; it generally does not detect balanced translocations or most single-nucleotide variants.
What is a key use of conventional karyotyping?Detecting aneuploidies and large structural chromosome changes, including balanced rearrangements that a microarray may not show.
What is the main limitation of fluorescence in situ hybridisation (FISH)?It is targeted to the probe region chosen; it is not a genome-wide screen for all possible chromosome changes.
Why might a suspected repeat-expansion disorder need a dedicated assay?Some expansions are not reliably characterised by routine short-read sequencing alone; testing may require a repeat-specific method, according to the locus and laboratory.
What can segregation analysis in a family help establish?Whether a variant tracks with the phenotype in relatives, which can contribute evidence for interpretation but does not by itself prove causality.
A person carries a disease-associated genotype but has no recognised features. Which concept does this illustrate?Reduced penetrance: not every person with the genotype expresses the associated phenotype.

That is a MySummaries deck, filled with medical genetics material. Yours is written from your own notes. Start free

Grade for accuracy, not familiarity

For the inheritance cards, say the risk and the assumptions. “One in two” is incomplete if you cannot say which parent carries the variant and what the other parent’s result is. The autosomal recessive answer should include all three outcomes. These are per-pregnancy probabilities, not a prediction that a family will have a particular sequence of affected and unaffected children.

Keep penetrance separate from expressivity. Penetrance asks whether a person with the genotype shows the phenotype; expressivity describes variation in features among people who do. If you can state only that a condition “varies between people”, grade it Hard and revisit the distinction.

The core to retain

After a first pass, identify the facts you need to retrieve quickly. This short checklist is cut from the deck: try to recite each item before reading it, and mark any item that still needs another review.

The deck’s must-not-miss core looks like this:

Must not miss coreMedical Genetics — inheritance, variants and tests
Autosomal dominant: a heterozygous affected parent and non-carrier partner give a 50% risk in each pregnancy.
Autosomal recessive: two heterozygous carrier parents give 25% affected, 50% carrier and 25% unaffected non-carrier in each pregnancy.
ACMG/AMP sequence-variant classes: pathogenic, likely pathogenic, uncertain significance, likely benign and benign; a VUS alone should not direct management.
Choose the test for the question: microarray for copy-number changes; karyotype for aneuploidy and large or balanced rearrangements; FISH for a targeted region.

A useful self-test is to explain why a chosen method fits the suspected variant type. Do not memorise “microarray is better” or “sequencing is more detailed” as general rules: the method depends on whether you are looking for a copy-number change, a chromosome rearrangement, a sequence variant or a repeat expansion. In practice, assay coverage and limitations vary by laboratory, so check the test specification when a clinical decision depends on it.

Turn a missed mark into a focused review

When a card is Again or Hard, do not immediately repeat the whole deck. Name the exact error: wrong risk, missing qualifier, confused terminology, or a mismatch between the test and the variant type. Then revisit the source section and retry that card later. If a particular distinction keeps costing you marks, make it the next short review rather than adding more facts at random.

A card generated from a repeated error might sit in the remediation tray:

Remediation tray

You lost this mark twice: which chromosome finding can conventional karyotyping detect that chromosomal microarray generally cannot?

Add cardDismiss

Answer it precisely: a balanced rearrangement, such as a balanced translocation, may be visible on karyotyping but usually is not detected by microarray. Then add the limitation to your own response: karyotyping has lower resolution for small changes, while microarray does not detect most single-nucleotide variants. That contrast makes the test-selection rule easier to retrieve in a case question.

A repeatable review routine

Use one short session to attempt the full deck, grading every response. Review Again and Hard cards first at the next session, then include Good cards to check that retrieval holds. Keep Easy for facts you can produce accurately and promptly; do not use it simply because the answer looks familiar. When a card exposes a misconception, correct the reasoning as well as memorising the answer—for example, distinguish a VUS from a pathogenic classification rather than learning only the list of five categories.

Finish by explaining the four core items aloud without looking. If you can state the inheritance assumptions, separate penetrance from expressivity, name all five variant classes and justify the test choice, you have a usable foundation for more detailed cases. Add condition-specific genes, phenotypes and local testing guidance from your own course material as you progress.

How MySummaries helps

Build a Medical Genetics revision board from your own PDFs, slides or notes, then generate a deck to practise the facts you need to retrieve. Review missed cards alongside the source material and keep the deck aligned with your syllabus. Open MySummaries.