u/AdEvening8393

I'm 28 weeks pregnant and my amniocentesis just revealed that our son has an extremely rare triplication of the short arm of Chromosome 11. The area affected is 11P12->P11.12.

Unfortunately neither my specialist nor the geneticist are able to provide any useful information as this has never been reported before. They're categorizing it as VUS, and there have only been two other cases of this involving duplications, not a triplication. My husband and I have both undergone testing and are awaiting results.

I am heartbroken and devastated to say the least and I'm just looking for anyone who might have a similar experience/insight.

reddit.com
u/AdEvening8393 — 9 days ago

I'm 28 weeks pregnant and my amniocentesis just revealed that our son has an extremely rare triplication of the short arm of Chromosome 11. The area affected is 11P12->P11.12.

Unfortunately neither my specialist nor the geneticist are able to provide any useful information as this has never been reported before. They're categorizing it as VUS, and there have only been two other cases of this involving duplications, not a triplication. My husband and I have both undergone testing and are awaiting results.

I am heartbroken and devastated to say the least and I'm just looking for anyone who might have a similar experience/insight.

reddit.com
u/AdEvening8393 — 9 days ago
▲ 5 r/NIPT

I'm 28 weeks pregnant and my amniocentesis just revealed that our son has an extremely rare triplication of the short arm of Chromosome 11. The area affected is 11P12->P11.12.

Unfortunately neither my specialist nor the geneticist are able to provide any useful information as this has never been reported before. They're categorizing it as VUS, and there have only been two other cases of this involving duplications, not a triplication. My husband and I have both undergone testing and are awaiting results.

I am heartbroken and devastated to say the least and I'm just looking for anyone who might have a similar experience/insight.

reddit.com
u/AdEvening8393 — 9 days ago

I'm 28 weeks pregnant and my amniocentesis just revealed that our son has an extremely rare triplication of the short arm of Chromosome 11. The area affected is 11P12->P11.12.

Unfortunately neither my specialist nor the geneticist are able to provide any useful information as this has never been reported before. They're categorizing it as VUS, and there have only been two other cases of this involving duplications, not a triplication. My husband and I have both undergone testing and are awaiting results.

I am heartbroken and devastated to say the least and I'm just looking for anyone who might have a similar experience/insight.

reddit.com
u/AdEvening8393 — 9 days ago