XXY GENETICS & EPIGENETICS

XXY GENETICS & EPIGENETICS

🔴 Part III - “Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.”

Episodes 5 to 11 are dedicated to the most extensive review of research on XXY to date. Episode 7 (Part III) shows that genes alone cannot explain the wide range of health risks related to the presence of an extra X chromosome. It is now thought other mechanisms are at play such as as the complex and subtle ways genes express themselves through epigenetics and the transcriptome.

Although mechanisms remain elusive, the resulting health risks are well know. What is clear is that genetics are not destiny, and early diagnosis and intervention should allow to take preventive measures and improve lifelong outcomes.

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk.

Publication: Endocrine Reviews, 2018. doi: 10.1210/er.2017-00212. Original Article (pdf download) available on chromodiversity.com.

Keywords: #KS #47XXY #47XYY #TurnerSyndrome #Genotype #Phenotype #MeioticDivision #CAGrepeatlength #azoospermia #SHOXgene #epigenome #transcriptome

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Episoder(40)

How to Predict Autism in Extra X & Y Children (2/2)

How to Predict Autism in Extra X & Y Children (2/2)

🔴 "Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention*" PART 2.Research over the past...

14 Mar 202327min

Last Words With Gary Glissman

Last Words With Gary Glissman

🟢 "I'm a thunderstorm kind of guy" - Gary Glissman, 1950 - 2023.In this podcast you’ll hear two back-to-back episodes with Gary Glissman, recorded October 2022 and re-edited into a single full 45 min...

27 Feb 202343min

How to Predict Autism in Extra X & Y Children (1/2)

How to Predict Autism in Extra X & Y Children (1/2)

🔴 "Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention.*" Although not many medical pr...

21 Feb 202327min

"Dazzling Zebras" with Professor Lara Bloom, Pres. & CEO of The Ehlers-Danlos Society

"Dazzling Zebras" with Professor Lara Bloom, Pres. & CEO of The Ehlers-Danlos Society

🟢 "Don't ever underestimate what even 5 minutes of just listening and validating someone's experience can lead to (...). It is the best gift (a doctor) can give any patient."Historically seen as a ra...

13 Feb 202331min

Extra X & Y: Exciting Future Trajectories*

Extra X & Y: Exciting Future Trajectories*

🟢 "Great genetic progress", "exciting early neurocognitive interventions", but "grave deficiency in current testing and care models" around the world. Listen to an easy to understand 25 minute summar...

30 Jan 202326min

 Peter’s XXY Journey Part 2:  A Lifetime of Lessons

 Peter’s XXY Journey Part 2:  A Lifetime of Lessons

🟢 “Had I been diagnosed earlier, how much more could I have accomplished?”In our previous episode “Peter’s XXY Journey Part 1: a 63-Year Diagnostic Odyssey”, Peter Street from Australia compares his ...

24 Jan 202318min

 Peter’s XXY Journey Part 1: A 63-Year Diagnostic Odyssey

 Peter’s XXY Journey Part 1: A 63-Year Diagnostic Odyssey

🟢 “95% of my life has been spent not knowing of my 47,XXY. It was like getting into a boxing ring with as your opponent the invisible man. You never saw where the punches were coming from.”In this ex...

17 Jan 202330min

"Radical Inclusion," Featuring Author Jodi Samuels* (2/2)

"Radical Inclusion," Featuring Author Jodi Samuels* (2/2)

🟢 "Kindness Kills..." Despite all the talk about diversity and inclusion, why are children with genetic differences and disabilities still socially excluded? And what do we plan to do about it?In thi...

10 Jan 202329min

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