Is maternal age a risk factor for Klinefelter's?
No. Neither is paternal age.
Klinefelter's is relatively common at 1 in 500. It is entirely possible for an affected individual to go through life unrecognized.
Patau's syndrome diagnosis
What is Patau's syndrome?
This is "Trisomy 13", meaning the affected fetus has an extra chromosome at pair number 13. The occurrence is 1 in 5000 (five thousand) live births.
Can Patau's syndrome be diagnosed antenatally (before birth)?
Yes. The screening blood tests for Down's can help detect Patau's as well. In addition, a detailed ultrasound has a good chance of detecting the various physical and organic defects associated with Patau's. There may be facial clefts and increased number of toes and fingers. The scan findings may trigger a definitive diagnostic test.
What are the prospects for a Patau's syndrome baby?
These children have such severe physical and mental handicaps that the majority of them die before the age of two. Less than 3% survive to the age of three and virtually none reach five years of age.
Are there any other chromosomal disorders?
Hundreds. Some of the chromosomal disorders are so lethal that pregnancies never advance beyond the first eight to ten weeks. These are therefore characterized by early miscarriage. Miscarriage will not be recurrent unless one of the parents is a carrier of the defect.
Other chromosomal disorders may be compatible with life, albeit short, but are very rare.
Can a chromosomal disorder be cured?
This is not possible, nor is there any prospect of this being possible in the foreseeable future.
Last update: February 5, 2013