Family plans and testing relatives
Sometimes a parent has it too without knowing. A counsellor can explain the chances and what the options are - for you and for your family.
If a kid has the deletion, doctors often check one or both parents. Two things can come out of it:
- Neither parent has it. Then it was a one-time accident while the baby was being made.
- One parent has it. Then each future child has a 1 in 2 chance - like a coin flip. The parent
might feel completely healthy, and that is normal.
A genetic counsellor is the person to talk to about all this. They are not there to tell a family what to do. They are there to explain the numbers and the options, and to answer questions without judging anyone.
The newest thing we found: 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.”
Brothers, sisters, cousins
If one child has it and a parent turns out to carry it too, other relatives might as well. Some families choose to test relatives, because knowing can change how often someone gets their kidneys and blood sugar checked. Other families don't. Both are reasonable choices.
When kids grow up
Grown-ups with 17q12 deletion who want children can talk to a genetic counsellor about their chances and about what testing during pregnancy can and cannot tell them. Nobody has to decide anything before they are ready.
What the newest stories say
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
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: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose scre”
“The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia,…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the phenotypes of carriers of reciprocal m”
“Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared…”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
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 80% · last updated 2026-11-14 16:44