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Page 1
17q12 Recurrent Deletion Syndrome.
Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL. Mitchel MW, et al. 2016 Dec 8 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2016 Dec 8 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 27929632 Free Books & Documents. Review.
GENETIC COUNSELING: 17q12 recurrent deletion syndrome is inherited in an autosomal dominant manner, with approximately 75% of deletions occurring de novo and approximately 25% inherited from a parent. Each child of an individual with 17q12 recurrent …
GENETIC COUNSELING: 17q12 recurrent deletion syndrome is inherited in an autosomal dominant manner, with approximately 75% of …
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.
Roehlen N, Hilger H, Stock F, Gläser B, Guhl J, Schmitt-Graeff A, Seufert J, Laubner K. Roehlen N, et al. J Clin Endocrinol Metab. 2018 Oct 1;103(10):3601-3610. doi: 10.1210/jc.2018-00955. J Clin Endocrinol Metab. 2018. PMID: 30032214 Review.
A PubMed search using the terms 17q12 deletion syndrome, diabetes mellitus type MODY5, and/or HNF1B was performed. EVIDENCE SYNTHESIS: Three hundred sixty-one cases of postnatal 17q12 deletion syndrome were assessed, and details on clinical manifestati …
A PubMed search using the terms 17q12 deletion syndrome, diabetes mellitus type MODY5, and/or HNF1B was performed. EVIDENCE SY …
17q12 Recurrent Deletion Syndrome in Childhood.
Ceravolo G, Mollica S, Cavallaro M, Ceravolo I, Sica G, Granata F, Houlden H, Chimenz R. Ceravolo G, et al. Genes (Basel). 2025 Dec 15;16(12):1499. doi: 10.3390/genes16121499. Genes (Basel). 2025. PMID: 41465172 Free PMC article. Review.
BACKGROUND: The 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the HNF1B gene, and it manifests with remarkable phenotypic variability. ...METHODS: We reviewed the literature on the molecular basis, c …
BACKGROUND: The 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the …
Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations.
Hasegawa Y, Takahashi Y, Nagasawa K, Kinno H, Oda T, Hangai M, Odashima Y, Suzuki Y, Shimizu J, Ando T, Egawa I, Hashizume K, Nata K, Yabe D, Horikawa Y, Ishigaki Y. Hasegawa Y, et al. Intern Med. 2024;63(5):687-692. doi: 10.2169/internalmedicine.1660-23. Intern Med. 2024. PMID: 38432894 Free PMC article.
17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of chromosome 17q12. We herein report a 35-year-old Japanese patient with chromosomal 17q12 deletion syndrome identified b …
17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of …
Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.
Jing XY, Huang LY, Zhen L, Han J, Li DZ. Jing XY, et al. J Obstet Gynaecol. 2019 Apr;39(3):323-327. doi: 10.1080/01443615.2018.1519693. Epub 2019 Jan 11. J Obstet Gynaecol. 2019. PMID: 30634886
The 17q12 deletion syndrome is a chromosomal anomaly resulting from the interstitial microdeletion of the long arm of chromosome 17. The aim of this study was to present the experience on prenatal diagnosis of 17q12 deletion to further define the prena …
The 17q12 deletion syndrome is a chromosomal anomaly resulting from the interstitial microdeletion of the long arm of chromoso …
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L. Rasmussen M, et al. Am J Med Genet A. 2016 Nov;170(11):2934-2942. doi: 10.1002/ajmg.a.37848. Epub 2016 Jul 13. Am J Med Genet A. 2016. PMID: 27409573 Review.
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). ...We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotype …
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarr …
17q12 microdeletion syndrome.
Bhargav VSLV, Venkatachari M, Arun Babu T. Bhargav VSLV, et al. BMJ Case Rep. 2024 Nov 7;17(11):e262697. doi: 10.1136/bcr-2024-262697. BMJ Case Rep. 2024. PMID: 39510608
The whole exome sequencing revealed a 1.4 mb deletion on the long arm of chromosome 17, which also involves HNF1B gene. Diabetes workup showed an HbA1c of 5.9% with normal fasting glucose levels suggestive of a possible pre-diabetes. ...This case depicts atypical pr …
The whole exome sequencing revealed a 1.4 mb deletion on the long arm of chromosome 17, which also involves HNF1B gene. Diabet …
17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.
Warren EB, Briano JA, Ellegood J, DeYoung T, Lerch JP, Morrow EM. Warren EB, et al. Dis Model Mech. 2022 Dec 1;15(12):dmm049752. doi: 10.1242/dmm.049752. Epub 2022 Dec 13. Dis Model Mech. 2022. PMID: 36373506 Free PMC article.
17q12 deletion (17q12Del) syndrome is a copy number variant (CNV) disorder associated with neurodevelopmental disorders and renal cysts and diabetes syndrome (RCAD). ...This mouse mutant represents the first and only experimental model to date for the 17q12 C …
17q12 deletion (17q12Del) syndrome is a copy number variant (CNV) disorder associated with neurodevelopmental disorders and re …
Co-existing bipolar disease and 17q12 deletion: a rare case report.
Bulu E, Kalayci Yigin A, Agirbasli D, Demirel OF, Aksoy Poyraz C, Seven M. Bulu E, et al. Psychiatr Genet. 2022 Feb 1;32(1):30-33. doi: 10.1097/YPG.0000000000000302. Psychiatr Genet. 2022. PMID: 34629388
BACKGROUND: 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb-spanning DNA sequence on the long arm of chromosome 17. ...In the microarray analysis of patient, 1.6 megabases deletion was d …
BACKGROUND: 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb- …
Estimates of penetrance for recurrent pathogenic copy-number variations.
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Rosenfeld JA, et al. Genet Med. 2013 Jun;15(6):478-81. doi: 10.1038/gim.2012.164. Epub 2012 Dec 20. Genet Med. 2013. PMID: 23258348 Free PMC article.
Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletions, 16p13.11 deletions, 16p12.1 deletions, 16p11.2 proximal and distal deletions and duplications, 17q12 deletio …
Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletions, …
270 results