KLINEFELTER

SYNDROME

Sami Hasan & Edoardo Garassino 18/03/2025 - 3ES

KLINEFELTER

FINE

INDICE

DIAGNOSI

SINTOMI

EREDITA'

DIFFUSIONE

VARIANTI

TIMELINE

PROGNOSI

ALTRI SINTOMI

CAUSA

INTRO

INTRODUZIONE

La sindrome di Klinefelter è una condizione genetica che colpisce i maschi e si verifica quando un individuo possiede un cromosoma X in più, risultando in un cariotipo 47, XXY invece del normale 46, XY.

1959

TIMELINE

+ Info

+ Info

+ Info

+ Info

TESE-ICSI

SCOPERTA DELLASINDROME

SCOPERTA CARIOTIPO 46

CONTINUI STUDI

PRIME SCOPERTE

1992

1956

2025

1942

CAUSA

NON DISGIUNZIONE

+ Info

La non disgiunzione si verifica quando i cromosomi omologhi, non riescono a separarsi, producendo uno spermatozoo con due cromosomi: uno X e uno Y

EREDITA'

E' EREDITARIA?

Questa anomalia cromosomica è dovuta a un errore naturale, non ereditario, che si realizza durante la maturazione dell’ovocita o dello spermatozoo (meiosi) L’errore della meiosi non è correlato a comportamenti della madre o del padre o a stili di vita particolari, sebbene la sua incidenza abbia una certa correlazione con l’età materna avanzata.

VARIANTI

• Cariotipo 48 - XXYY
• Cariotipo 48 - XYYY
• Cariotipo 48 - XXXY
• Cariotipo 49 - XXXXY
• Cariotipo 49 - XXXYY
• Cariotipo 49 - XXYYY

SINTOMI #1

SINTOMI #2

DIFFUSIONE

La sindrome di Klinefelter è la più comune anomalia cromosomica sessuale nei maschi, con una diffusione stimata di circa 1 su 500-1000 nati maschi in tutto il mondo. Tuttavia, la diagnosi può essere difficile, e si stima che solo il 25% circa dei maschi affetti venga diagnosticato durante la vita.

DIAGNOSI

PROGNOSI

+ Info

Purtroppo, non si può guarire dalla sindrome di Klinefelter; il motivo è semplice: non esiste una cura in grado di normalizzare il corredo cromosomico.

GRAZIE PER LA VOSTRA ATTENZIONE

FINE!

un fattore positivo

Tuttavia, va detto anche che la qualità e l'aspettativa di vita dei pazienti affetti da questa malattia sono buone, rispetto a soggetti con altre sindromi cromosomiche.

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SCOPERTA

Una svolta cruciale avvenne nel 1959, quando la genetista Patricia Jacobs e il suo collega John Strong scoprirono che la sindrome di Klinefelter era dovuta a un'alterazione cromosomica: invece del normale cariotipo maschile 46,XY, questi pazienti possedevano un cariotipo 47,XXY.

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• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like! Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like! Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

Got an idea?

Let the communication flow!

With Genially templates, you can include visual resources to wow your audience. You can also highlight a particular sentence or piece of information so that it sticks in your audience’s minds, or even embed external content to surprise them: Whatever you like! Do you need more reasons to create dynamic content? No problem! 90% of the information we assimilate is received through sight and, what’s more, we retain 42% more information when the content moves.

• Generate experiences with your content.
• It’s got the Wow effect. Very Wow.
• Make sure your audience remembers the message.

CARIOTIPO 46

Joe-Hin Tjio e Albert Levan stabiliscono che il numero di cromosomi umani è 46, aprendo la strada alla comprensione delle anomalie cromosomiche.

HARRY KLINEFELTER

Scopri questa malattia assieme ai suoi colleghi nel 1942