SoylentNews

upstart [soylentnews.org] writes:

████ # This file was generated bot-o-matically! Edit at your own risk. ████

A unique case of a woman with male chromosomes in her blood [vijesti.me]:

A unique case of a woman with male chromosomes in her blood

This is believed to be the first recorded case of its kind, and doctors believe her blood came from her twin brother while they were in the womb.

7693 views0 comment(s)Disclaimer: The translations are mostly done through AI translator and might not be 100% accurate.

In every other cell in her body, Ana Paula Martins has XX chromosomes associated with female sex characteristics.

But in her blood cells she carries XY chromosomes that typically determine biological male sex.

This is believed to be the first recorded case of its kind, and doctors believe her blood came from her twin brother while they were in the womb.

This phenomenon was discovered in 2022, after a miscarriage experienced by Ana Paula.

During a medical examination, the gynecologist ordered a karyotype analysis, which allows for a detailed examination of an individual's chromosomes, usually from a blood sample.

"They called me from the lab and said the analysis needed to be repeated," Ana Paula recalls.

The results showed the presence of XY chromosomes in her blood, which confused both Ana and the doctors.

"I went to examine the patient and she had, so to speak, absolutely all the normal female characteristics," explains Gustavo Maciel, a gynecologist at a Brazilian health organization. Fleury Medicine and Health.

"She had a uterus, ovaries... the ovaries were functioning normally," adds this professor at the School of Medicine of the University of São Paulo.

Ana Paula was then referred to geneticist Kai Kwai at the hospital. Albert Einstein Israelita Sao Paulo.

He began detailed medical research with Professor Masiel and other experts.

'A little bit of her brother runs through her veins'

During the research, Ana Paula told doctors that she had a twin brother, which was crucial to understanding her case.

Comparing their DNA showed that Ana Paula's blood cells, but only blood cells, were identical to those of her twin brother.

She had the same characteristic genetic markers.

"In the DNA of her mouth, in the DNA of her skin - she is her own, unique," says Professor Maciel.

"But in her blood, she is, in fact, her brother."

Ana Paula's case is an example of chimerism, when an organism has different genetic sets in different tissues or organs.

Certain medical therapies can lead to chimerism, such as bone marrow transplantation.

For example, when leukemia patients receive donor cells that then populate their bone marrow.

Spontaneous chimerism is "a very rare occurrence," emphasizes Dr. Kwai.

By reviewing scientific papers, researchers identified cases of twin pregnancies in other mammals in which blood exchange occurred between twins of different sexes.

Scientists assume that in the womb, the placentas of Ana Paula and her twin brother made some kind of contact, forming a connection between the blood vessels that carried the boy's blood to the girl's.

"There was a blood transfusion that we call intertwin transfusion syndrome."

"At one point, the twins' veins and arteries intertwined in the umbilical cord and he transferred all of his blood material to Anne Paule," explains Professor Maciel.

"The most astonishing thing is that this material remained in her body her entire life," he adds.

It is assumed that her brother's blood cells re-colonized Anna Paula's bone marrow.

She then began producing blood with XY chromosomes, while the XX remained in other parts of her body.

"She has a little piece of her brother running through her veins," says Dr. Quayo.

Rare successful pregnancy

The team believes that this unusual case could contribute to further research into human immunity and reproduction.

Ana Paula's body tolerates her brother's cells and they are not attacked by her immune system.

"Her case could open up new fields of research and help us better understand some issues, for example, those related to transplantation," says Professor Maciel.

There are reports of rare cases of the presence of XY chromosomes in women, but these are mostly associated with fertility problems.

However, this is not the case with Ana Paula, who became pregnant during the research and gave birth to a healthy son.

Genetic analysis showed that the child has the expected DNA - half of the chromosomes come from the mother and half from the father, and there is nothing from the uncle.

"(Anne Paula's) egg cell contains her genetic material."

"Her blood was not involved," explains Professor Maciel.

It was important for Anna Paula to discover the cause of her genetic change, but most importantly, she learned that it would not affect her pregnancy.

"It wasn't something that could get in the way of achieving my goal of having my baby," she says.

BBC is in Serbian from now on and on YouTube, follow us HERE. [youtube.com]

Follow us on Facebook [facebook.com], Twitter [x.com], Instagram [instagram.com] i Viber [viber.com]. If you have a topic suggestion for us, please contact bbcnasrpskom@bbc.co.uk

• Babies conceived with genetic material from three people born free of hereditary diseases [bbc.com]
• How genes work: American scientists win Nobel Prize in Medicine [bbc.com]
• How a DNA test can change someone's life [bbc.com]
• Do babies created by mixing the DNA of three people have the right to know who they are [bbc.com]
• A woman who does not feel pain due to a rare genetic mutation [bbc.com]
• By "editing" DNA to remove genetic defects [bbc.com]

Bonus video:

Newschromosomes [vijesti.me]Ana Paula Martins [vijesti.me]XY chromosomes [vijesti.me]XX chromosomes [vijesti.me]

See also:

• Scientists Discover Woman Carrying TWO Sets of DNA [youtube.com]

Original Submission