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Coverage: all available years, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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17q12 Microdeletion Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Retraction notice to "Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype" [Eur. J. Obstet. Gynecol. Reprod. Biol. 311 (2025) 114023].
Tian Weihua et al., European journal of obstetrics, gynecology, and reproductive biology (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41785718/
- 2.
Chromosome 17q12 deletion, including
Boe Nina et al., AJOG global reports (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/42016181/
- 3.
Follow-up of a 9-month-old boy with a prenatal history of a 17q12 microdeletion at amniocentesis encompassing HNF1B and LHX1 and no obviously phenotypic abnormality.
Chen Chih-Ping, Taiwanese journal of obstetrics & gynecology (1 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41813401/
- 4.
Corrigendum: "Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome" EBioMedicine, 2025, Feb:112:105578.
Shin Junghee J et al., EBioMedicine (1 January 2026)
https://pubmed.ncbi.nlm.nih.gov/41447758/
- 5.
Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review.
Yang Yue et al., Clinical nephrology. Case studies (1 January 2026)
https://pubmed.ncbi.nlm.nih.gov/41924323/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
17q12 Microdeletion Syndrome
17q12 microdeletion syndrome is a rare genetic condition caused by a missing piece of chromosome 17. It commonly affects the kidneys, causing cysts or abnormal kidney development, and can lead to early-onset diabetes. Some people also have developmental delay, learning difficulties or autism. Care is shared between kidney, hormone and developmental specialists and is tailored to each person.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
17q12 Microdeletion Syndrome is very rare and little research has been published, so this page includes research from every year, including case reports about individual patients. Case reports are marked, and describe one person's experience rather than tested results.
Most Recent Research
Common Questions
What is 17q12 Microdeletion Syndrome?
17q12 microdeletion syndrome is a rare genetic condition caused by a missing piece of chromosome 17. It commonly affects the kidneys, causing cysts or abnormal kidney development, and can lead to early-onset diabetes. Some people also have developmental delay, learning difficulties or autism. Care is shared between kidney, hormone and developmental specialists and is tailored to each person.
How many clinical trials are available for 17q12 Microdeletion Syndrome?
No clinical trials are currently indexed for 17q12 Microdeletion Syndrome. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for 17q12 Microdeletion Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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