Karyotype case analysis
This page has four parts, in the order you use them. Part 1 is what you need to know. Part 2 says what to do, in plain English. Part 3 shows the work done once on a case that is not yours. Part 4 is your own work and where to turn it in.
Open your materials, follow the steps, then turn in your work.
Students individually arrange and interpret a karyotype to identify a chromosomal abnormality in a patient case.
Check you have the right sheet: the top of it prints today's portal day, Karyotype case analysis. The PLTW activity itself is in myPLTW and is not posted here.
Optional: listen or watch a unit review▸
Part 1 of 4 · Background and definitions▸
💡 Big idea: A is a diagnostic tool whose result depends on following a precise , so an error in cutting or pairing can produce a false diagnosis.
- • Chromosomes are paired by homologs using size, banding pattern, and centromere position.
- • An extra or missing detected in a indicates a numerical abnormality.
- • Procedural errors in cutting, pairing, or image quality can produce a false reading.
Genetic tests reveal permanent, shared family information, so decisions about testing must be governed by consent and privacy rather than by any single person's wishes.
A is a diagnostic tool whose result depends on following a precise , so an error in cutting or pairing can produce a false diagnosis.
Driving question: You are handed a practice patient's scrambled chromosomes as paper cut-outs. Following the , can you arrange every pair, count them, and name the finding without introducing your own error?
What you already know: Genetic tests reveal permanent, shared family information, so decisions about testing must be governed by consent and privacy rather than by any single person's wishes.
New idea: A is a diagnostic tool whose result depends on following a precise , so an error in cutting or pairing can produce a false diagnosis.
Visual or model: No figure is attached to this lesson. The readings, the worked example and E1 to E3 carry the evidence.
- Observe or measure the relevant feature in case analysis.
- Organize the observation with a stable evidence ID.
- Apply this rule: Define variables, controls, sampling, units, and the analysis plan before interpreting a result; analysis cannot repair biased or inconsistent measurement.
- Choose the option the evidence supports and state the limit of the conclusion.
Real biomedical example: You are handed a practice patient's scrambled chromosomes as paper cut-outs. Following the , can you arrange every pair, count them, and name the finding without introducing your own error?
What the evidence supports: E1 to E3 support the daily take-home when the response meets the stated success criteria.
What it cannot prove: The package does not support claims beyond this lesson's or any real patient diagnosis.
- • : A photograph of a person's chromosomes arranged in pairs by size, used to spot missing, extra, or rearranged chromosomes.
- • inheritance: The passing of genetic traits from parents to offspring through genes carried on chromosomes during reproduction.
- • : The specific set of gene versions an individual carries, which works with the environment to shape observable traits.
- • phenotype: The observable traits of an organism, such as appearance or function, that result from its combined with environmental influences.
- • : A person who carries one copy of a disease without showing symptoms but can pass it to their children.
- • pedigree: A family tree drawn with standard symbols (squares for males, circles for females, filled for affected) so any geneticist can read a family at a glance.
- • : The increased chance of developing a disease that a person inherits because of specific gene variants passed down in their family.
Use it now: Choose one decision option. Cite E1 and E3, then explain how the rule connects the evidence to your choice. This is thinking practice for the one turn-in named under Turn in, not a second submission.
Go further, optional: The source links below are optional enrichment. Every fact required for today's local evidence decision appears in this lesson package.
Genetic evidence can support an inheritance, , sequence, or expression explanation, but penetrance, regulation, environment, family structure, and test uncertainty can limit the conclusion.
Limit: A classroom , , pedigree, or molecular model does not establish a real person's diagnosis, prognosis, identity, or reproductive outcome.
Define variables, controls, sampling, units, and the analysis plan before interpreting a result; analysis cannot repair biased or inconsistent measurement.
Limit: A well-organized classroom study can still be limited by , measurement quality, confounding, and the population represented.
Produce a correctly ordered following the lab .
Limit: E3 defines the classroom product or success criterion. It is not independent scientific evidence and cannot justify a clinical or causal claim.
Today's decision · Simulated classroom evidence scenario
Your role: biomedical investigator
Decision: Your team must decide what the evidence from case analysis supports before submitting the lab report named on today's page.
- • Have a partner recheck your pairing before naming the abnormality, since a single misplaced creates a false diagnosis.
- • Pair chromosomes using banding pattern and centromere position along with size, then name the abnormality from the finished .
- • Match each to the pair closest in length, because once the size looks right the pair is right.
Response: State one choice, cite at least two evidence IDs, explain the rule that connects them, and add one limitation. Use it inside the one turn-in named under Turn in; it is not a separate submission.
Claim ceiling: Today's evidence supports a classroom claim about case analysis. It cannot prove causation, diagnose a real patient, or justify action outside this room.
Reason for review: Your team must decide what the evidence from case analysis supports before submitting the lab report named on today's page.
Context: A diagnostic result is only as trustworthy as the standard procedure behind it, so recognizing sources of error is part of reading the result.
- • T1: Record the for cutting, pairing, and ordering the practice chromosomes on your sheet.
- • T2: Identify the independent and dependent variables in this diagnostic procedure.
- • T3: Sort the pieces by size, centromere position and stripes into the 22 numbered slots plus the sex slot on the template.
- • T4: Count every piece and check each slot against its reference outline for an extra or missing .
- • T5: Write the count, a one-sentence finding, and one source of error that could affect the reading.
- • E1: Genetic evidence can support an inheritance, , sequence, or expression explanation, but penetrance, regulation, environment, family structure, and test uncertainty can limit the conclusion.
- • E2: Define variables, controls, sampling, units, and the analysis plan before interpreting a result; analysis cannot repair biased or inconsistent measurement.
- • E3: Produce a correctly ordered following the lab .
Measurements: No patient measurement is supplied unless it appears explicitly in E1-E3. Do not invent a value.
Uncertainty: This is a composite classroom scenario. Missing history, measurements, or confirmation tests remain unknown and limit the conclusion.
Students often think once a is 'about the right size' it belongs in that pair, so they stop checking after size. The trap: Size alone is not enough; two chromosomes can be close in length but differ in banding pattern and centromere position. The trap is pairing by size only, which lets a misplaced slip through and produces a false reading.
- CER:
- Claim, Evidence, Reasoning: make a claim, back it with evidence, explain your reasoning.
- SOP:
- Standard Operating Procedure, the exact steps to follow (especially in a lab).
- Tracker:
- Your PLTW progress log where you record completed evidence.
- myPLTW:
- The PLTW course site where you do the online activities. Find it in Clever with your Microsoft sign-in, right next to Schoology.
Tap the speaker to hear a term. Add two of these to your notebook glossary with a definition and an example in your own words.
Pick just 2 or 3 words from today and make them yours: write what each one means in your own words, name the context clue or evidence that helped, then give one example from what you actually did in Karyotype case analysis. Try your own words first; the glossary is there if you get stuck. This is voluntary and counts as extra credit, so keep it short.
Saved on this device. Show Mr. Mendoza or add these to your notebook glossary to claim the extra credit.
Part 2 of 4 · Directions in plain English▸
2.1 Open your materials
Use the materials named in the first step below. Open lesson resources.
2.2 Start the work
Record the SOP for cutting, pairing, and ordering the practice chromosomes on your sheet.
Show all 5 required steps
- Record the SOP for cutting, pairing, and ordering the practice chromosomes on your sheet.
- Identify the independent and dependent variables in this diagnostic procedure.
- Sort the pieces by size, centromere position and stripes into the 22 numbered slots plus the sex chromosome slot on the template.
- Count every piece and check each slot against its reference outline for an extra or missing chromosome.
- Write the count, a one-sentence finding, and one source of error that could affect the reading.
Lost your place? You should have the SOP recorded and your variables identified (steps 1-2). If so, keep sorting the pieces into the numbered slots (step 3), count and check each slot (step 4), then write the finding and one error source (step 5).
- 0-5 minReview posted at station: cutting, pairing, and mounting sequence.
- 5-10 minRecord what is given (the practice pieces) and what you produce (the completed and its count).
- 10-50 minIndividual construction: sort 22 autosome pairs plus sex chromosomes; mount on template.
- 50-65 minCount the pieces and check every slot against its reference outline; write the finding.
- 65-75 minRecord one source of procedural error that could affect the diagnosis.
- 75-80 minPhotograph the template with your count, finding and limitation; submit it as one PDF in Schoology.
- • Today you are the clinical cytogenetics technician: your reading is what the will use.
- • Follow the exactly, sequence matters just as it does in a real lab.
- • This is a Handling/Preparation/Storage/Disposal skill (your end-of-course WebXam strand 5): precision and documentation count.
- • When you identify the abnormality, write it down in proper clinical language.
PLTW connection and today's work
Activity 2.2.4 Clues in the Chromosomes in Lesson 2.2 Decoding a Diagnosis is today's PLTW activity. This class does it on paper with the practice pieces on your sheet; open it in myPLTW only to read the background.
Today's stopping point: Today you build the karyotype. Reach the abnormality-identification question and submit it.
PLTW activity titles identify the course connection. If your account will not open, use the posted materials for today and tell Mr. Mendoza. Do not mark an online activity complete unless you completed it.
Course connection
- Activity 2.2.4 Clues in the Chromosomes
Use the turn-in directions in Part 4 of this page. Do not create a second submission unless your teacher asks for one.
Show another explanation or a smaller first step
Need help? Choose a starting point
Finish the assigned lab safely before starting extra practice.
Part 3 of 4 · Worked example▸
This is a parallel case, not your own. Read it for the order of the work, then do your own in Part 4.
Karyotype lab (a practice patient, not your case and not the practice patient on your sheet):
- SOP followed: cut out each chromosome piece, sort by size (largest to smallest), match centromere position and banding pattern, place each pair in its numbered slot, sex chromosomes last.
- Variables: independent variable is the patient's chromosome set; dependent variable is the final count and arrangement.
- Count: 47 chromosomes.
- Result: 21 normal autosome pairs, three copies of chromosome 21 instead of two, and XX (written 47,XX,+21).
- Finding in one sentence: this practice patient has 47 chromosomes with XX sex chromosomes and an extra copy of chromosome 21.
- Abnormality, stated as the finding: a change in chromosome number, one extra whole chromosome 21, so the pair is a trio.
- Procedural limitation: if two chromosomes have similar size and banding, I could mis-pair them, which would produce a false reading; a piece trimmed short while cutting makes this worse.
This model shows the level of evidence and organization needed to complete: A finished karyotype template with chromosome pairs ordered per the SOP, the abnormality stated as a finding, and one stated procedural limitation.
- State the question and method.
- Present the observations and data with units.
- Explain the result, limitations, and next investigation.
Keep the structure. Replace the question, facts, measurements, and evidence. Then recheck units, vocabulary, and whether the conclusion goes beyond the evidence.
Also due today: Photograph the template with your count, finding and limitation, and submit it as one PDF to Schoology assignment for this lesson in Schoology before the period ends.
A research team lays out its question, variables, controls, sampling plan, measurement record, and analysis before deciding what the data support.
- Which variable is changed or compared?
- Which conditions and measurements must stay consistent?
- Which conclusion is inside the study's evidence boundary?
Define variables, controls, sampling, units, and the analysis plan before interpreting a result; analysis cannot repair biased or inconsistent measurement.
A well-organized classroom study can still be limited by , measurement quality, confounding, and the population represented.
- • Question and variable cards map to the study design.
- • Control and measurement cards map to fair, reproducible data collection.
- • The conclusion card maps to a bounded claim supported by the analysis.
Part 4 of 4 · Your work▸
Check your work before submitting
- Produce a correctly ordered karyotype following the lab SOP.
- Identify the chromosomal abnormality and state one procedural limitation.
Before lab work: read the safety rules
- Handle scissors with blade pointing down when moving.
- Keep workspace clear of loose scraps to avoid contaminating another student's karyotype.
- Wash hands after handling printed lab materials.
4.1 Turn in your work
DueCheck the Schoology assignment for this day- Hand in
- Your completed practice karyotype on the template with numbered pairs, the total chromosome count, a one-sentence finding, and one stated procedural limitation.
How to submit and name your file
Photograph the template with your count, finding and limitation, and submit it as one PDF to the Schoology assignment for this lesson in Schoology before the period ends.
In Schoology, open your course and the assignment for this lesson. Attach your file, select Submit, and check that it appears in the submission.
PDF upload helpYou get two school days for every day you were absent, so this deadline moves with you.
Today's lesson is in Schoology
Each school day has one lesson page in Schoology that holds everything for the day: the goal, the story so far, every table and data value, the numbered steps, and what to turn in. Open it first and work from it. The other rows for this day, if any, are the score line for a paper quiz or test and the John Carroll debate item; they do not add work. Check Schoology for each deadline.
- Today's Lesson · Wed 11/4 · Wk11 · Genetic disorders and the jobs of proteins, then protein synthesis(today's lesson page: the goal, the data, the steps, and what to turn in are all on it)
Link will not open? Open Schoology, choose your course and section, and find the title shown above.
- CompleteEvery required part of the artifact is present, nothing left blank.
- AccurateThe science and the data are correct and match the evidence.
- Scientific reasoningYou explain your claim with evidence and reasoning (CER), not just an answer.
- Professional communicationClear, organized, labeled, and written the way a clinician or scientist would.
- SubmittedGo to Schoology to turn this in. Submit one PDF. Schoology attaches your name to your upload; on the page itself, write your period and code. Name the file: FirstName LastName - Assignment Title - YYYY-MM-DD.pdf. If you cannot get in, see Mr. Mendoza. Do not skip the work.
- Error analysis and method · counts doubleName a specific limit of the method and how it moved your result, and compare what you predicted to what happened. "Human error" does not count; say what about the procedure or instrument caused it.
How this lesson connects
Keep using what you learned last class: Genetic tests reveal permanent, shared family information, so decisions about testing must be governed by consent and privacy rather than by any single person's wishes. Today: A karyotype is a diagnostic tool whose result depends on following a precise SOP, so an error in cutting or pairing can produce a false diagnosis.
Practice: try a question, then check your answer▸
Claim ceiling for this check: Today's evidence supports a classroom claim about case analysis. It cannot prove causation, diagnose a real patient, or justify action outside this room.
Your finished karyotype comes out one chromosome short of 46. Before you report it, what is one procedural error you must rule out?
Write an answer and pick a confidence to unlock the key.
Fast retrieval with instant answers, not the commit-then-reveal check above. Try each from memory first: write what you remember about the earlier units, then check yourself here.
Missed class or ready for more?▸
Run this before you touch the bench. It is built from the real lab procedure, so the decisions you make here are the ones you will make with the equipment in your hands. This lesson has more than one, and they cover different skills.
I can name the procedure's purpose and the evidence I will record. I can name today's hazards and the control for each: Handle scissors with blade pointing down when moving. My data table is ready before materials are handled.
Finish the checklist before you handle any material.
- • Handle scissors with blade pointing down when moving.
- • Keep workspace clear of loose scraps to avoid contaminating another student's karyotype.
- • Wash hands after handling printed lab materials.
- 1Before materials are handled, identify the purpose, variables or comparison, controls, measurement units, and stop-work condition.
- 2Record the SOP for cutting, pairing, and ordering the practice chromosomes on your sheet.
- 3Identify the independent and dependent variables in this diagnostic procedure.
- 4Sort the pieces by size, centromere position and stripes into the 22 numbered slots plus the sex chromosome slot on the template.
- 5Count every piece and check each slot against its reference outline for an extra or missing chromosome.
- 6Write the count, a one-sentence finding, and one source of error that could affect the reading.
- 7Record each result in the prepared table before interpreting it. Mark missing, repeated, or invalid results truthfully.
- 8Complete the named cleanup and waste route, remove PPE safely, wash hands when required, and confirm the station is ready for the next group.
| Which trial or sample this row is | What you changed on purpose | What you measured, with units | What you saw, before you explain it | Anything that could make this reading wrong |
|---|---|---|---|---|
Before the procedure, predict the result and cite the rule behind the prediction.
After the procedure, compare the result with the prediction and name one limitation or source of uncertainty.
What today's skills lead to. These are real health-science careers this course builds toward. Tap one to see, on the US Department of Labor's O*NET site, what the job actually involves, what it pays, and how fast it is growing.
Today is individual work you can do from home: complete the same target above, then submit your Lab report.
Go to Schoology to turn this in. Submit one PDF. Schoology attaches your name to your upload; on the page itself, write your period and code. Name the file: FirstName LastName - Assignment Title - YYYY-MM-DD.pdf. If you cannot get in, see Mr. Mendoza. Do not skip the work.
Class still runs. Complete today's work as this page describes (it is self-guided). Need the concept taught without a teacher? Use this authoritative explainer:
NHGRI: how to read a pedigreeSources: slides, readings, and resources▸
The deck carries the prior idea forward, lets you inspect an analogy, maps the rule to biology, and ends with the same evidence decision and exit ticket used on this page.
Hand-picked readings and interactives for this lesson, from authoritative open organizations and PLTW's own public course outline.
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