1qh + 16qh, infertility and ICF syndrome
(Work in progress)
After the disaster of untreated #meningomyeloencephalitis in 2001, the consequences of which only became apparent later and are still evident today, I was only able to return to work in 2003, still quite shaken, and then with long-distance commuting.
Due to the unclear conditions, intermittent failures of unclear origin occurred again and again during the course of the illness, such as completely half-sided, sensitive failures, which I became aware of in the morning when washing up and in the shower in my second home.
Among other things, I couldn’t feel my temperature with the right side of my body.
As a right-handed person, you go into the sink with your right hand first, and only the left hand that follows you can feel the dilemma of the water being too hot; in the shower it was so strange because I couldn’t feel the jet of water myself.
A neurologist referred me to the university hospital in the city where I worked at the time, and not just because of this.
In that #neurology department, for the first time in my life, reference was made in the diagnostic reports to the congenital #dysmorphia syndrome, which was already clearly recognisable but has remained unknown to this day.
I was referred to their human genetics department for a consultation, where the first theory of #fetofetal#transfusion syndrome (#FFTS) was put forward, as there were excellent female scientists in #twin research there at the time.
The ladies are said to have been disgusted away later and founded their own institute.
We were always told that we were dizygotic twins, and she asked me how this had come about and I told her about the explanations I had heard all my life.
Then she took out a folder and showed me pictures of unizygotic male twins who all looked different from each other, just like us.
And in these twins, one had all the crap, like me, and the other had nothing, like my brother.
Then she told me that there are four different singleton pregnancies.
And that one of them can lead to #FFTS, which means that during foetal development, one of the twins is sometimes fed more and the other less.
The result is a kind of surprise egg, because often both or at least one of them does not survive, or the outcome is “milder”, as in our case.
So there was a first chromosome analysis, which showed abberations that could not yet be assigned to any pathology at the time, but there were still plans to have mosaics examined, but this was no longer to be done at some point for unknown reasons, presumably as Untermensch Kassler, for cost reasons.
Well, of course I was immediately on the lookout for the meaning of 1qh+ and 16qh+ and found research reports from South America in 2008.
They were about unexplained infertility, just like mine, and almost all of them had exactly the same aberrations as mine.
Nowadays, there are confirming research reports from all inhabited continents.
Somehow, it must be possible to reduce human reproduction.
Okay, as is my way, I don’t poke doctors in the nose with my findings, because from experience and to put it nicely, this is more likely to lead to contralateral discomfort.
So, I wrote to the human genetics department at that university hospital in 2013 (Figure 1), as I hadn’t been following the topic for years at the time and had already determined my correct answer myself.
But I asked them to comment anyway, and they replied as I expected (image 2) …