Help, and other families
There are organisations and family groups for chromosome differences, and places to read more if you want to know more.
You don't have to figure this out alone. There are:
- family support groups for chromosome changes, where parents and kids talk to each other
- rare disease organisations that help families find information
- your own doctors - ask them, even things that feel too small to ask
And if you just want to read more, this site keeps every article it has read, with links, so you can see exactly where something came from.
The newest thing we found: The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome.
Good questions to bring to a doctor
- What should we be watching for, and how often?
- Who do we call if something changes between appointments?
- Are there other families we could talk to?
- Is there a study we could take part in?
Where this site's information comes from
The pages here are collected automatically from public sources: scientific articles, genetic databases and family organisations. Every finding links back to the exact sentence it came from, so you can always check the real thing.
What the newest stories say
For Patients – 17q12 Patient Registry
The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome.
“The 17q12 Patient Registry collects data on the following topics: Socio-demographics Medical history and diagnostics Treatment and disease progression Management of care Quality of life Is the data secure?”found in 1 stories · we are 86% sure · updated 2026-11-13 · read it
Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
“ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.”found in 1 stories · we are 80% sure · updated 2026-11-13 · read it
Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
“ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.”found in 1 stories · we are 80% sure · updated 2026-11-13 · read it
17q12 Foundation - National Organization for Rare Disorders
For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News Make 2026 Count: Gift research, care, and advocacy for families everywhere Your gift today fuels progress in the lab, in clinics, on Capitol Hill and for rare families who can't wait another year for answers.
“For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News Make 2026 Count: Gift research, care, and advocacy for families everywhere Your gift today fuels progress in the lab, in clinics, on Capitol Hill and for rare…”found in 1 stories · we are 80% sure · updated 2026-11-13 · read it
Someone reported something new: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
“In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
“We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
“Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
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
This entry is version 15. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 75% · last updated 2026-11-14 16:44