Super Sexes – Medical Midweek #3

1A) Jacobs Syndrome –> 47,XYY
Jacobs is the presence of an extra Y-chromosome in males. It is a fairly common occurrence, being present in approximately 1 of every 1000 male births. Most people with XYY do not show symptoms at all, or very mild symptoms, and are entirely unaware of their extra chromosome. Some males reading this today probably have it, and have no clue. Do YOU?

Supermales may be taller than average in stature and have more acne than average. Learning disabilities and difficulty socializing may be present in some individuals, though average IQs are not reduced relative to those of the general population. It is thought that only 15-20% of supermales are ever diagnosed.

This extra chromosome is the result of nondisjunction occurring during the production of the sperm cell that fertilized the ovum during conception.

https://en.wikipedia.org/wiki/XYY_syndrome

2A) Trisomy X –> 47,XXX
Trisomy X is the presence of a extra X-chromosome in females. As with XYY in males, XXX is common, being present in approximately 1 of every 1000 female births. Most people with XXX do not show symptoms at all and are entirely unaware of their trisomy-X; only an estimated 10% of cases are ever diagnosed. XXX in females acts somewhat similarly to XYY in males.

This extra chromosome can be from either parent, with nondisjunction occurring during either the process of sperm or ovum development.

Physical symptoms that may be present include sharp pinkie curvature (clinodactyly, as above), skin folds along the medial side of the eyes (near the bridge of the nose), widely-spaced eyes, and tall stature. In very few cases, disability may be present, such as delayed motor development, weak muscle tone, and seizures. XXX also increases risk for autism, language delays, ADHD, poor self-esteem, anxiety and depression – however, keep in mind that even in the trisomy-X population, most people don't have any of these symptoms, or only have very mild symptoms.

I bet some of you ladies reading this have this condition, whether you know it or not. (Hell, I've somewhat suspected I have it, myself, since learning of it a few years ago, due to my psychological/behavioural phenotype.)

https://studylib.net/doc/8750652/triple-x-syndrome-trisomy-x-ftnw
https://en.wikipedia.org/wiki/Triple_X_syndrome

2B) Tetrasomy X –> 48,XXXX
Tetrasomy X is the presence of two extra X-chromosome in females. It is far rarer than trisomy X, with just over 100 diagnoses since it's discovery in 1961. Symptoms are similar to those that may be present in someone with trisomy X, but are more common and have the potential to be more severe – especially in terms of cognitive disability.

Extra Xs are received from both parents, with non-disjunction occurring in both the sperm and the ovum development.

https://www.yumpu.com/en/document/read/25669191/tetra-x-ftnwpub-unique-the-rare-chromosome-disorder-
https://en.wikipedia.org/wiki/Tetrasomy_X

2C) Pentasomy X –> 49,XXXXX
Pentasomy X is the presence of – you guessed it! – THREE extra Xs! It is very rare, with only ~40 reported cases since its discovery in 1963.

For the most part, symptoms are similar in nature to those that may be found in XXX and XXXX, but with increased permeance/expressivity and severity. However, some symptoms are the opposite – such as having short stature and especially short necks, as opposed to being long and lanky as someone with trisomy X might be. Cognitive deficits tend to be quite severe.

https://en.wikipedia.org/wiki/Pentasomy_X

XXXXX likely occurs as the result of serial nondisjunction during the formation of the mother's gametes.

Notice the extremely wide-set eyes and epicanthal folds next to her eyes (medially) – as well as the broad, flat bride to her nose.

Wide-set eyes, again, as well as low-set ears. XXX and XXXX do not seem to really have a visibly abnormal phenotype to show you, but once we get to XXXXX, I can point out a few odd characteristics in these photos.

Dog tax!
I hope you enjoyed this post, and learned something good! People seemed to like the first medical-ish post I made, and I thought I'd keep going with it.

The first one was very popular: https://imgur.com/gallery/QOh6heC
The second one, not so much. If you're interested, here it is, anyway: https://imgur.com/gallery/O6a5mXk