6 doctors weighed in:
What is the testing process like for patau syndrome?
6 doctors weighed in

Dr. Ira Salafsky
Clinical Genetics
4 doctors agree
In brief: 13 trisomy
Patau syndrome is caused by13 trisomy.
It can be suspected by find the characteristic malformations including, cleft lip/palate/ eye and ear abnormalities, scalp defects, congenital heart disease and polydactyly. Definitive diagnosis is by chromosomal analysis revealing an extra 13 chromosome. Testing can be done from blood, skin, a cvs or amniocentesis sample or in tissue from a poc.

In brief: 13 trisomy
Patau syndrome is caused by13 trisomy.
It can be suspected by find the characteristic malformations including, cleft lip/palate/ eye and ear abnormalities, scalp defects, congenital heart disease and polydactyly. Definitive diagnosis is by chromosomal analysis revealing an extra 13 chromosome. Testing can be done from blood, skin, a cvs or amniocentesis sample or in tissue from a poc.
Dr. Ira Salafsky
Dr. Ira Salafsky
Thank
In brief: Re: genetic consult
Refer your question to genetics.

In brief: Re: genetic consult
Refer your question to genetics.
Dr. Ecaterina Sartina
Dr. Ecaterina Sartina
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