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Original Article

Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series

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References

  • Bellanné-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, et al. 2005. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 54:3126–3132.
  • Bernardini L, Gimelli S, Gervasini C, Carella M, Baban A, Frontino G, et al. 2009. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet Journal of Rare Diseases 4:25. doi: 10.1186/1750-1172-4-25.
  • Chen CP, Chang SD, Wang TH, Wang LK, Tsai JD, Liu YP, et al. 2013. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family. Taiwanese Journal of Obstetrics and Gynecology 52:551–557.
  • Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, et al. 2016. Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney International 90:203–211.
  • Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, et al. 2007. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. Journal of the American Society of Nephrology: JASN 18:923–933.
  • George AM, Love DR, Hayes I, Tsang B. 2012. Recurrent transmission of a 17q12 microdeletion and a variable clinical spectrum. Molecular Syndromology 2:72–75.
  • Gilboa Y, Perlman S, Pode-Shakked N, Pode-Shakked B, Shrim A, Azaria-Lahav E, et al. 2016. Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism. Prenatal Diagnosis 36:1027–1032.
  • Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L, et al. 2015. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. American Journal of Medical Genetics. Part A 167A:250–253.
  • Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, et al. 2010. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clinical Journal of the American Society of Nephrology 5:1079–1090.
  • Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A. 2012. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. Fetal Diagnosis and Therapy 31:129–133.
  • Jones GE, Mousa HA, Rowley H, Houtman P, Vasudevan PC. 2015. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature. Prenatal Diagnosis 35:1336–1341.
  • Laffargue F, Bourthoumieu S, Llanas B, Baudouin V, Lahoche A, Morin D, et al. 2015. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. Archives of Disease in Childhood 100:259–264.
  • Ledig S, Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, et al. 2018. Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies. Clinical Genetics 93:640–646.
  • Lei TY, Fu F, Li R, Wang D, Wang RY, Jing XY, et al. 2017. Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract. Nephrology Dialysis Transplantation 32:1665–1675.
  • Li R, Fu F, Zhang YL, Li DZ, Liao C. 2014. Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies. Taiwanese Journal of Obstetrics & Gynecology 53:579–582.
  • Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP, et al. 2010. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. American Journal of Human Genetics 87:618–630.
  • Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, et al. 2010. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. European Journal of Human Genetics 18:278–2784.
  • Quintero-Rivera F, Woo JS, Bomberg EM, Wallace WD, Peredo J, Dipple KM. 2014. Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome. American Journal of Medical Genetics. Part A 164A:3076–3082.
  • Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, et al. 2016. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. American Journal of Medical Genetics. Part A 170:2934–2942.
  • Tsatsaris V, Gagnadoux MF, Aubry MC, Gubler MC, Dumez Y, Dommergues M. 2002. Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome? BJOG: An International Journal of Obstetrics and Gynaecology 109:1388–1393.
  • Verhave JC, Bech AP, Wetzels JF, Nijenhuis T. 2016. Hepatocyte nuclear factor 1β-associated kidney disease: more than renal cysts and diabetes. Journal of the American Society of Nephrology 27:345–353.
  • Zhang R, Marsch F, Kause F, Degenhardt F, Schmiedeke E, Märzheuser S, et al. 2017. Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations. Birth Defects Research 109:1063–1069.

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