What it can look like
Some people have many things going on, some have almost nothing. Here is the whole list of what *can* happen - not what *will* happen.
Here is the honest part: this list is long, but no one has everything on it. It is a list of things that can happen, not a list of things that will.
Some kids and grown-ups with 17q12 deletion have:
- kidneys that need extra checking, or that don't drain properly
- diabetes (their blood sugar needs help)
- starting to talk later than their friends, or needing speech therapy
- learning to read or do maths with more effort - extra help at school makes a big difference
- being extra shy, or having a hard time with change, or moving their hands a lot when excited
- sometimes: eyes or ears that need glasses or hearing help, a small heart difference, a tummy
that is fussy
And lots of people have none of these. Some never know they have it.
The newest thing we found: A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
Why the list is so long
The missing page has about 15 genes on it, and different genes do different jobs in different parts of the body. Which jobs end up mattering depends on the rest of your genes too - which is why brothers and sisters with the same deletion can be very different from each other.
What doctors usually keep an eye on
Kidneys (ultrasound), blood sugar (a simple blood or urine test), blood pressure, hearing and eyes, learning and speech, and sometimes the heart and liver. That sounds like a lot of appointments, but most of them are quick and painless, and they are done so nothing gets missed.
What the newest stories say
Someone reported something new: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
“In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic liver disease of unknown origin.”
“Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
“We reported for the first time three patients with cardiac and great artery malformations.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
“However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
“For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”
“(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
“We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
“In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
This entry is version 13. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 80% · last updated 2026-11-14 16:44