Genetic Syndromes & Genetics
Trisomy 13 (Patau syndrome)
Trisomy 13 is a chromosomal condition, caused by an extra copy of chromosome 13, that can include encephalocele.
In short: Trisomy 13 (Patau syndrome)
- It is caused by an extra copy of chromosome 13.
- It can include encephalocele among many features.
- It is a serious condition.
- It can be detected through genetic testing.
What it is
It is a chromosomal condition caused by an extra (third) copy of chromosome 13, also called Patau syndrome. It involves multiple body systems and can include an encephalocele among its features.
Understanding Trisomy 13 (Patau syndrome)
It is a serious condition affecting many systems, and an encephalocele can be one of its features. It can be detected through prenatal or postnatal genetic testing, such as chromosomal analysis. When an encephalocele is accompanied by other findings, chromosomal testing may be offered to check for conditions like trisomy 13, and genetic counseling supports families through these results.
Why it matters
Understanding trisomy 13 helps families see why an encephalocele with multiple other findings prompts chromosomal testing, and why genetic counseling is part of care when a chromosomal condition is identified.
Common questions
What causes trisomy 13?
An extra copy of chromosome 13.
Can it include encephalocele?
Yes, it can.
How is it detected?
Through genetic (chromosomal) testing.
Bottom line
Trisomy 13 (Patau syndrome) is caused by an extra chromosome 13 and can include encephalocele among many features.
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