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So, ‘it’s genetic’ or ‘it may be genetic’ are terms that get tossed around a lot about many different conditions. This post is the first of three-part series about gene-related abnormalities.

The three big categories I’m going to write about are abnormal numbers of chromosomes, identifiable genetic abnormalities, and inherited genetic tendencies. For all three types, I know people with at least one of these issues and can share a bit of what they’ve been through and how and why they are affected.

Chromosomes and reproduction

So chromosomes are a larger container of genetic information. You most commonly hear about things being ‘in the genes’, but genes are naturally gathered into chromosomes.

Most people have 23 pairs of chromosomes, each of which is full of genetic information, but occasionally people are conceived with more or less, which causes certain changes in their development.

During egg and sperm formation(meiosis), each egg and each sperm are supposed to have a total of 23 chromosomes, one out of each pair of the parent’s.

Every once in a while, that division doesn’t happen quite right and one or the other is missing a chromosome or has an extra one.

This is a picture of a karyotype of trisomy 21 – you can see three chromosomes in the position labeled 21 when all others are paired, with the exception of the X and Y chromosomes.

In most cases, an extra or missing chromosome causes a miscarriage and the fetus isn’t brought to term. With medical improvements, there are also some chromosomal issues that lead to live births, but with the infant only living for days to weeks. Also, some chromosomal abnormalities are associated with the shape or size of certain chromosomes, rather than the addition or subtraction of entire chromosomes.

This post is focused on the two types of chromosomal additions and subtractions that produce a viable fetus that can become an adult human.

Trisomy-21 or Downs Syndrome

The 21st chromosome is the smallest of all the chromosomes. It appears to be one of the few cases where an extra copy of an entire chromosome doesn’t simply cause an early loss of pregnancy.

In many cases, Downs Syndrome is not an inherited trait, but instead the result of a spontaneous copying issue. More commonly this occurs in the egg, but it has been known to occur in sperm as well.

Downs Syndrome affects facial features, growth and development, muscle strength, and often slows cognition. There’s also a high risk of developing Alzheimer’s disease at an early age. Many people with Downs Syndrome may also develop additional medical complications, like esophageal reflux, celiac disease, or hypothyroidism.

From anecdotes by others, though, I’ve also heard that people with Downs Syndrome tend to be relatively happy people and can thoroughly enjoy their lives.

Sex cell abnormalities

The other chromosomal abnormality that tends to make it to term are sex cell abnormalities.

These the chromosomes that generally determine the physical sex of a child. Biological men usually have an X and a Y chromosome, while biological women usually have two X chromosomes.

However, it is possible to be born with only an X chromosome(Turner Syndrome), or with additional X or Y chromosomes.

Having an extra X chromosome, XXY, is referred to as Kleinfelter syndrome. Having more than three sex chromosomes is also possible and doesn’t appear to be particularly more dangerous than having only one or more than two.

My experience with Kleinfelter Syndrome

I dated a man with Kleinfelter syndrome for years. I helped him get diagnosed and to get treatment, and a large part of why I left him was actually due to his refusal to properly treat his symptoms.

He was a sweet guy, was very good at connecting with people, always seemed to know the right thing to say.

But every once in awhile, he would get angry, and I mean out of control is-he-going-to-hit-me type angry(I referred to these as anger spasms). I wouldn’t know what would set him off, and he wouldn’t really be able to explain it either.

Driving a cab part-time isn’t much of a career, though it makes sense as an income supplement.

We were together for years, but he just couldn’t seem to get his life together. He drove a cab part-time, and also cobbled together some additional money by going through wealthy towns on bulk pickup nights and finding things to sell to antique stores and flea markets. It was an interesting but unreliable way to live.

He shared that he’d never been good at school, and I suspected he had some learning disabilities that had never been diagnosed.

He also didn’t have any facial hair and never had to shave.

I did some research and talked to him about Kleinfelter syndrome, and he said some doctor had mentioned it when he was younger, but his parents had refused to have him tested.

So I convinced him to do it, and it confirmed that he was indeed XXY. The only treatment for Kleinfelter syndrome is using testosterone to take his testosterone level up from where it was to something approaching the average testosterone level for his age.

I suspect that his family didn’t want the testing done because one of the other effects of being XXY is that most men with it are effectively sterile.

The ideal treatment for people who are XXY

In many cases, an individual with Kleinfelter syndrome may also have learning delays, coordination delays and low muscle tone, which will slow his motor skills(like walking, sitting or standing) and may impair his learning in school.

Many XXY boys also have difficulty expressing themselves and have some issues with reading. This cluster of symptoms can be noticed early in a boy’s life, and each symptom can be managed with therapy.

If a boy is identified as XXY, he can be given extra testosterone as he hits puberty and kept on it for the rest of his life to make up for the low production.

There is also an option for collecting and freezing his sperm(production of viable sperm is most likely when he’s younger) in case he wants children in the future.

Identified at that age, an XXY man can live a pretty normal life, with just a few learning disabilities and some increased risk for some health conditions, such as metabolic syndrome(type II diabetes or hypertension, among other symptoms), osteoporosis, or autoimmune disorders.

XXY diagnosed in adults

However, an adult who is XXY has a much harder time. After I convinced him to take testosterone, I started to experience why.

Being XXY and untreated leaves a man with extremely low testosterone which impacts his ability to push himself and his energy level.

His testosterone level isn’t reliable, so he’ll have these periods of higher testosterone which sometimes expresses as anger or irritability, and other times his testosterone is so low that he has a hard time doing anything.

Effectively, XXY men are stuck in something like puberty their entire post-puberty lives.

My Ex’s response to Testosterone treatment

After my boyfriend at the time started the testosterone treatment, those anger spasms increased, both in frequency and length of time.

He also would not use the testosterone consistently, like he needed to, instead he used it as a drug, and took it when he wanted some extra energy.

Testosterone can be absorbed in a few different forms, including as a lotion to be rubbed into the body.

He’d forget to take it some days, and so never developed a regular testosterone level, which was the point of taking it.

I did some further research and was dismayed to discover that it can take years of regular usage before an XXY man would reach a stable point with his testosterone level.

After several terrifying episodes of his anger getting out of control, including one day where I was physically holding the door to my apartment closed while he banged on it, demanding to be let in, I realized that I couldn’t keep doing that to myself.

I recognized that he had become an abusive partner and that it was neither healthy nor safe for me to stay in the relationship, so I moved out and ended it. I still wish him the best, but I couldn’t stay with him.

Sometimes, I feel a little guilty that I opened this can of worms, but I recognize that it wasn’t the diagnosis that was the problem, but his unwillingness or inability to use the testosterone reliably.

Chromosomal abnormalities just happen

Chromosomal abnormalities are one form of genetic condition, but are mostly caused by chance and are not predictable or really preventable.

It is possible to get samples of fetal DNA during pregnancy to see if you will have a child with any of these conditions, but there is no corrective/preventative treatment.

This isn’t commonly done, and leaves the parents with determining whether to bring the child to term or abort, which many people with disabilities rightly view as a form of eugenics.

In most cases, people with sex cell abnormalities are sterile and unable to have children.

Down Syndrome does not cause infertility, so it is possible for adults with Down Syndrome to have children.

While this does increase the chance of a child being born with Down Syndrome, it is not a guarantee, even if both parents have the condition(there is a 50% chance of a child having Down Syndrome if both parents do.)

Understanding Chromosomal abnormalities

Chromosomal abnormalities usually occur during meiosis, when sex cells are created. For unknown reasons, the division becomes uneven, with one cell having 24(or more) chromosomes and the other having 22(or less) chromosomes, or one or more chromosomes ends up in an unusual shape or pattern.

While there are many chromosomal abnormalities possible, many of them result in an early miscarriage(spontaneous abortion) because the egg isn’t viable.

When it comes to chromosomes being missing or added, the only abnormalities that will lead to a viable life(living beyond about 4 years of age) tends to be either an additional 21st chromosomes(the smallest), which is generally referred to as Down Syndrome or an additional or missing sex chromosome, the most common of which are Turner Syndrome(X,0) or Kleinfelter syndrome(XXY).

All of these conditions can be associated with learning disabilities, as well as additional health issues. While Down Syndrome does not cause infertility, the sex chromosome issues generally do.

People with Down Syndrome usually do not inherit the trait from their parents, but they are able to have children of their own, and the chance of that child having down syndrome is 35-50% if one parent has Down syndrome and even higher if both do.

Having been involved with a person with Kleinfelter Syndrome, I feel comfortable talking about my experience with its effects. I will note that this individual was not diagnosed until his late 30s(which is unfortunately all too common) and had some major additional challenges in his life.

My understanding is that there is much more hope for children diagnosed with Turner and Kleinfelter Syndrome, as treatments beginning before or at puberty are likely to be much more effective.

Down Syndrome is rarely missed, but work must be done by the family of children with this condition to understand the severity and effects from it, to give their child the best chance at a healthy life.

The key point is that these conditions generally occur spontaneously, and there is no fault involved on either the parent or child’s part. All of these conditions are a genetic roll of the dice, and cannot be predicted, though they can be diagnosed prior to birth or at any time during the individual’s life.

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2 Comments

  1. Wondeful, informative post, Alison! Once again, you’ve tackled an incredibly hard subject and you’ve broke it down into easy to understand pieces for readers to understand.

    I remember learning about Kleinfelter syndrome and other chromosome differences in university. The science nerd in me finds it so fascinating. Thanks for another great share! Do you have any books you’d recommend reading on this topic?

    1. Carrie,
      Thank you so much!
      I’m afraid all my research is the combination of schooling and web searches, so no books to recommend.
      One of my big resources while I was in the relationship was a support group on yahoo, for the wives and girlfriends of XXY men. It was great on some levels, to be able to get that support, but also sad because so many of those relationships seemed to end in a similar way: the female partner ending the relationship because she felt pushed to either by his actions (as in my case) or inactions (inability to father children, lack of drive for advancement). I remember reading that generally older XXY men (so mid-thirties and up) didn’t particularly want treatment because they were good with who they were and had found their own paths by then.
      I agree that this is fascinating stuff, and I am sure that there are useful books out there- let me know if you find one!

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