Plain-language explanations first, then the detail, then the evidence the crawler actually found. Blue "In plain language" boxes are written for people who have never read a genetics paper; the sections below them are for when you want the numbers and the sources.
A rare, variable genetic condition caused when a small piece of one copy of chromosome 17 is missing. It commonly affects the kidneys and can cause diabetes and learning or speech differences - but the range of what people experience is wide.
Read →Family organisations, rare-disease portals and the primary clinical references, all of which this crawler tracks.
Read →Machine-assembled summary of 6 insights from 6 supporting sources.
Read →A chromosomal microarray (or genome/exome with CNV calling) finds it. A standard karyotype can miss it. Prenatal detection is increasingly common. Parental testing comes next.
Read →50% transmission risk if a parent carries it. Cascade testing of relatives is the single most useful next step. Prenatal and preimplantation options exist.
Read →Machine-assembled summary of 3 insights from 3 supporting sources.
Read →About 15 genes are usually deleted. HNF1B does most of the work. The deletion is autosomal dominant: it can come from a parent (often a parent who is mildly affected and undiagnosed) or arise new in the child.
Read →Machine-assembled summary of 257 insights from 864 supporting sources.
Read →The most medically actionable part of the condition: structural kidney differences, reduced kidney function, and HNF1B-MODY diabetes. All are screenable, and screening changes outcomes.
Read →There is no treatment for the deletion itself. Care is: screen the kidneys, pancreas and glucose; support development early; treat what shows up; and hand over sensibly at the transition to adult services.
Read →Machine-assembled summary of 4 insights from 803 supporting sources.
Read →Machine-assembled summary of 30 insights from 182 supporting sources.
Read →Speech delay is the most commonly reported early sign. Support needs range from none to intellectual disability; autism traits, ADHD and anxiety are over-represented, and there is a raised risk of psychosis in adulthood.
Read →Many carriers go to school, work and live independently. The main threats to quality of life are untreated kidney disease, mislabelled diabetes, and unsupported speech or learning needs.
Read →Natural-history and genotype-phenotype studies, HNF1B cell and animal models, better breakpoint mapping with long-read sequencing, and registries that recruit families.
Read →Machine-assembled summary of 44 insights from 44 supporting sources.
Read →Machine-assembled summary of 62 insights from 433 supporting sources.
Read →Kidneys and urinary tract, pancreas/diabetes, liver enzymes, reproductive anatomy, development, speech, behaviour, and occasionally seizures or heart differences. Any subset is possible - including none at all.
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