Genetic Syndromes & Genetics
Karyotype
A karyotype is a test that examines a person's chromosomes for changes in number or structure.
In short: Karyotype
- It can detect conditions like trisomy 13 or 18.
- It looks at the number and structure of chromosomes.
- It is one type of genetic test.
- It may be part of evaluating a syndromic encephalocele.
What it is
It is a laboratory test that examines a person's chromosomes — their number and overall structure — by looking at them under a microscope. It can identify large chromosomal changes.
Understanding Karyotype
A karyotype can detect conditions caused by extra or missing chromosomes, such as trisomy 13 or trisomy 18, which can include an encephalocele. It is one type of genetic test, useful for large-scale chromosomal changes; more detailed tests like chromosomal microarray can detect smaller changes. A karyotype may be part of evaluating an encephalocele that is accompanied by other findings.
Why it matters
Understanding the karyotype helps families see how chromosomal conditions are detected and why this test may be part of evaluating a syndromic encephalocele.
Common questions
What does a karyotype examine?
The number and structure of chromosomes.
What can it detect?
Conditions like trisomy 13 or 18.
Is it the only genetic test?
No — others, like chromosomal microarray, detect smaller changes.
Bottom line
A karyotype examines the chromosomes and can detect conditions like trisomy 13 or 18.
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