Turner Syndrome; Missing X Chromosome

Missing X Chromosome- Turner Syndrome

Andrea Kostic, 9B

12/10/2014

Mr. Youell

            Mothers want what is best for us; it has always been like that. Even though being only 25 years old, Penny Jarvis already has four children. However, the last child she has delivered is a young girl, born with turner syndrome. Her name is Mackenzie Jarvis.  (See on fig. 1.) Penny’s goal is to freeze her own eggs, in order to provide Mackenzie with an option to have children later on in her life. Mackenzie was diagnosed with turner syndrome when she was five months old, simply because she was not feeding properly. Her mother was shocked and upset, where she says: ‘’I cried my eyes out. I cried for days. Even now I cry.’’

Fig. 1-Penny Jarvis with her daughter, Mackenzie

            Human beings are supposed to have two sex chromosomes in each cell. There are two possible combinations; X and Y which results as a male, and X and X which ends up being female. However, turner syndrome occurs when in female’s cell only one X chromosome is present, while the other one is either missing or being structurally different (see fig. 2).  That is exactly what happened with young Mackenzie, being diagnosed with turner syndrome, which itself affects a female individual in various ways.

Fig.2 -missing X chromosome

The reason why Penny Jarvis decided to freeze her own eggs is because turner syndrome causes infertility. Most women with Turner’s syndrome have ovarian difficulties, usually followed by very early menopause. Studies have shown that only 2% of women have natural pregnancies (where miscarriage is common), where it’s understandable why Penny made this decision.  Turner syndrome occurs one in about 2,500 girls, and infertility is not its only consequence. Quite the opposite, one of the most common things Turner syndrome affects is height, along with neck, heart and kidney. Almost all individuals being diagnosed with Turner syndrome have short stature. Scientists explain that due to a loss of one X chromosome, containing SHOX gene. SHOX gene is responsible for long bone growth. Average height of females with Turner Syndrome is 145 cm, and it is possible to be increased, with a special treatment given in early childhood.  In addition, Mackenzie is partially deaf, and she is required to wear a hearing aid and to communicate through sign language; more information about Turner syndrome on genome.gov.

I think Penny is a great example of treating everyone equally, even the people with chromosomal disorders. She is an example of giving them a choice in life. Penny does not pay any attention to her surroundings and other people’s thoughts, where she said: ‘’I have been called some really nasty names. To be honest, I expected that. But it’s par of the territory. My main priority is Mackenzie.’’

            This specific article on BBC has provided us and introduced us with a fact that people with disorders should have a choice in their life. It is certainly not Mackenzie’s fault for being born with missing X chromosome, and not a single right should be taken away from her. Having said that, Penny Jarvis should be respected for her actions, and Mackenzie should be provided with as much help as it is achievable.