9 doctors weighed in:

Can you tell on a karyotype if someone has prader-willi syndrome?

9 doctors weighed in
Dr. Ira Salafsky
Clinical Genetics
7 doctors agree

In brief: Sometimes

Prader-willi syndrome can be caused by a deletion in chromosome 15 that is visible on routine cytogenetic analysis.
Other patents have a submicroscopic deletion that is only visible by fish analysis or cgh microarray. Still others have the syndrome because of uniparental disomy detectable by a methylation study.

In brief: Sometimes

Prader-willi syndrome can be caused by a deletion in chromosome 15 that is visible on routine cytogenetic analysis.
Other patents have a submicroscopic deletion that is only visible by fish analysis or cgh microarray. Still others have the syndrome because of uniparental disomy detectable by a methylation study.
Dr. Ira Salafsky
Dr. Ira Salafsky
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1 comment
Dr. Satish Sundar
Great answer.

In brief: Specific test

The definitive test for Prader Willi Syndrome, in the absence of a deletion on karyotype, is methylation testing to determine if there is a condition called uniparental disomy.
(the PWS critical region of chromosome 15 has only maternal and no paternal imprinting, so both copies of the region are of maternal origin.) more to follow ... see:http://www.ncbi.nlm.nih.gov/books/NBK1330/#pws.Molecular_Genetics

In brief: Specific test

The definitive test for Prader Willi Syndrome, in the absence of a deletion on karyotype, is methylation testing to determine if there is a condition called uniparental disomy.
(the PWS critical region of chromosome 15 has only maternal and no paternal imprinting, so both copies of the region are of maternal origin.) more to follow ... see:http://www.ncbi.nlm.nih.gov/books/NBK1330/#pws.Molecular_Genetics
Dr. Lois Freisleben-Cook
Dr. Lois Freisleben-Cook
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