Principles of Biomedical Technology (Principles of Biomedical Science)
Unit 2: Unit 2.2 to 2.3 Genetic RiskPBS 2.2-2.3Biotechnology Research and Experiments

Interpret A Karyotype

Count chromosomes in a karyotype to spot a normal set (46), an extra chromosome (trisomy), or a missing one.

Builds on (2 levels back)inferred · high confidence
  • Chromosomes come in pairs: A normal human karyotype has 23 pairs (46 total), so each numbered slot should hold two.
  • Count and compare: Reading a karyotype means counting how many chromosomes sit in each numbered pair.

Prerequisites are inferred: pending teacher review.

Re-learn the skill with worked practice and clear examples.

Interpret the count in a slot: two chromosomes is a normal pair, three is a trisomy (an extra chromosome), and one is a missing chromosome.

Step 1: Count each slot
Look at how many chromosomes sit in a numbered slot. Two is the normal pair.
Step 2: Name three as trisomy
If a numbered slot holds three chromosomes instead of two, that is a trisomy: one extra chromosome. Trisomy 21 is the example for chromosome 21.
Step 3: Name one as monosomy
If a slot holds only one chromosome, that is a monosomy: a missing chromosome.
Practice

A karyotype key says chromosomes should be in pairs. One numbered slot shows three copies of the same chromosome. What does that suggest?

Approved
What you see in the karyotypeWhat it means
23 matched pairs, 46 chromosomes totalA normal human set
Two chromosomes in a numbered slotA normal pair for that number
Three chromosomes in one numbered slotTrisomy - one extra chromosome (for example, trisomy 21)
Only one chromosome in a numbered slotMonosomy - a missing chromosome
The last pair (sex chromosomes)XX = female, XY = male
How to read a human karyotype and what different chromosome counts mean.
  1. A.Trisomy: an extra chromosome (for example, trisomy 21)
  2. B.A normal pair
  3. C.Monosomy: a missing chromosome
  4. D.A normal sex-chromosome pair
Show the worked solution ▾

Answer: A. Trisomy: an extra chromosome (for example, trisomy 21)

  1. Step 1: Compare to the pair: A normal slot has two chromosomes. This slot has three, which is one more than expected.
  2. Step 2: Name it from the table: The table says three chromosomes in one slot is a trisomy: an extra chromosome, like trisomy 21.

Why it's right: Three copies in one numbered slot is one more than the normal pair, which the table defines as a trisomy (an extra chromosome).

Why the others miss:
  • B: A normal pair is two chromosomes; three is one too many.
  • C: Monosomy is one chromosome (missing one), the opposite of an extra one.
  • D: The sex-chromosome pair (XX or XY) is two chromosomes, not three.

Aligned to BRE: interpret chromosome number (trisomy) · reading level ~grade 9

Where you'd see this
  • In Unit 2.2 to 2.3 Genetic Risk, this skill turns class evidence into a result another person can check.
Video library
Watch: Interpret A Karyotype
Chromosomes and Karyotypes (UPDATED)
Amoeba Sisters · 8 min
Guided notes

Fill these in as you work through the lesson.

Big idea: A karyotype is a sorted picture of all the chromosomes; you read it by counting: a normal human set is 46 in 23 pairs, three in one slot is a trisomy, and one in a slot is a missing chromosome.
Key terms: write the meaning
  • Karyotype (a sorted picture of all the chromosomes):  
  • Chromosome (a packaged length of DNA):  
  • Pair (the two chromosomes of one number):  
  • Trisomy (three copies (one extra) of a chromosome):  
  • Monosomy (one copy (one missing) of a chromosome):  
  • Sex chromosomes (XX female, XY male):  
The rule

A normal human karyotype has   chromosomes in   pairs. Three copies in one numbered slot is a  . Only one copy in a slot is a  .

Check yourself
  1. How many chromosomes are in a normal human karyotype, and in how many pairs? 
  2. What is it called when one numbered slot holds three chromosomes instead of two? 
  3. Which pair tells you whether the karyotype is XX or XY? 
Work one example

A karyotype shows three chromosomes in slot number 21 and two in every other slot. Name what this shows. (Answer: trisomy 21: an extra copy of chromosome 21.)