Nuchal translucency as a potential marker of Emanuel syndrome: a case report
DOI:
https://doi.org/10.15574/PP.2025.2(102).133139Keywords:
Emanuel syndrome, prenatal diagnosis, nuchal translucencyAbstract
Aim: to study a clinical case of Emanuel Syndrome (ES) in a newborn child, which arose as a result of a balanced chromosomal translocation in the mother, for early detection of the syndrome.
Clinical case. A 32-year-old woman with an uncomplicated family history presented with a fetus showing increased nuchal translucency (NT) of 3.2 mm at 12 weeks of gestation. The pregnant woman refused the proposed invasive testing. Second-trimester ultrasound identified placenta previa, moderate oligohydramnios, and a hyperechoic focus in the left ventricle, with no major structural anomalies. Biochemical markers in both trimesters were unremarkable. Postnatally, the infant displayed mild dysmorphic features, severe hypotonia, and profound developmental delay. Cytogenetic and Fluorescent In Situ Hybridization analyses confirmed Emanuel syndrome due to a supernumerary chromosome der(22)t(11;22) inherited from the maternal balanced translocation t(11;22).
Conclusion. Increased NT may serve as a useful early marker for ES in prenatal screening, even in the absence of structural malformations or family history. Further research is warranted to validate NT's role in improving early detection of the syndrome.
The research was carried out in accordance with the principles of the Declaration of Helsinki. The copyright agreement from the child's parents was obtained for the study.
The authors declare no conflict of interest.
References
Carter MT, Barrowman NJ, St Pierre SA, Emanuel BS, Boycott KM. (2010). Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees. Am J Med Genet. 152A: 212-214. https://doi.org/10.1002/ajmg.a.33166; PMid:20034094 PMCid:PMC2802109
Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet. 149A: 1712-1721. https://doi.org/10.1002/ajmg.a.32957; PMid:19606488 PMCid:PMC2733334
Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS. (2013). Derivative 11;22 (Emanuel) syndrome: a case report and a review. Case Rep Pediatr. Epub 2013 Apr 18. 2013: 237935. https://doi.org/10.1155/2013/237935; PMid:23691404 PMCid:PMC3652044
Fraccaro M, Lindsten J, Ford CE, Iselius L. (1980). The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet. 56: 21-51. https://doi.org/10.1007/BF00281567; PMid:7203479
Hao X, Wu J, Fu W et al. (2022). Prenatal diagnosis of fetuses with Emanuel syndrome: results of ultrasound examination and invasive genetic testing. Prenat Diagn. 42: 469-477. https://doi.org/10.1002/pd.6098; PMid:35043432
Hou JW. (2003). Supernumerary chromosome marker Der(22)t(11;22) resulting from a maternal balanced translocation. Chang Gung Med J. 26: 48-52.
Jancevska S, Kitanovski M, Laban N, Danilovski D, Tasic V, Gucev ZS. (2015). Emanuel Syndrome (ES): new case report and review of the literature. Pril Makedon Akad Nauk Umet Odd Med Nauki. 36: 205-208. https://doi.org/10.1515/prilozi-2015-0046; PMid:26076791
Jobanputra V, Chung WK, Hacker AM, Emanuel BS, Warburton D. (2005). A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer. Prenat Diagn. 25: 683-686. https://doi.org/10.1002/pd.1196; PMid:16049998 PMCid:PMC2810961
İkbal Atli E, Gürkan H, Vatansever Ü, Ulusal S, Tozkir H. (2016). A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother. Balkan J Med Genet. 18: 77-82. https://doi.org/10.1515/bjmg-2015-0089; PMid:27785401 PMCid:PMC5026272
Iselius L, Lindsten J, Aurias A et al. (1983). The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families. Hum Genet. 64: 343-355. https://doi.org/10.1007/BF00292366; PMid:6618487
Kazandı M, Turan V, Zeybek B, Argon A. (2010). Emanuel Syndrome. Ege J Med. 49: 209-211.
Kee SK, See VH, Chia P, Tan WC, Tien SL, Lim ST. (2013). Differential out-comes in an extended family with constitutional t(11;22)(q23.3;q11.2). J Pediatr Genet. 2: 37‐41.
Kilijanova D, Hynek M, Prosova B, Hejtmankova M, Smetanova D. (2017). Prenatal diagnosis of Emanuel syndrome: a case report. Ultrasound Obstet Gynecol. 50: S312. https://doi.org/10.1002/uog.18509
Kim HJ, Kim YM, Lee HB, Kim JH, Seo EJ, Yoo HW. (2012). A case with Emanual syndrome resulting from a maternal translocation. J Med Gen. 9: 35-37. https://doi.org/10.5734/JGM.2012.9.1.35
Lindblom A, Sandelin K, Iselius L et al. (1994). Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. Am J Hum Genet. 54: 871-876.
Luo Y, Lin J, Sun Y et al. (2020). Non-invasive prenatal screening for Emanuel syndrome. Mol Cytogenet. 13. https://doi.org/10.1186/s13039-020-0476-7; PMid:32158503 PMCid:PMC7057502
Ohye T, Inagaki H, Kato T, Tsutsumi M, Kurahashi H. (2014). Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result. Pediatr Int. 56: 462-466. https://doi.org/10.1111/ped.12437; PMid:24980921
Piwowarczyk P, Massalska D, Obodzińska I et al. (2022). Prenatal diagnosis of Emanuel syndrome - case series and review of the literature. J Obstet Gynaecol. 42: 2615-2620. https://doi.org/10.1080/01443615.2022.2114331; PMid:36048922
Saffren BD, Capasso JE, Zanolli M, Levin AV. (2018). Ocular manifestations of Emanuel syndrome. Am J Med Genet. 176: 1964‐1967. https://doi.org/10.1002/ajmg.a.40361; PMid:30178914
Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR. (2018). Phenotypic characterization of derivative 22 syndrome: case series and review. J Genet. 97: 205-211. https://doi.org/10.1007/s12041-018-0905-0; PMid:29666339
Schoemaker MJ, Jones ME, Higgins CD, Wright AF et al. (2019). Mortality and cancer incidence in carriers of constitutional t(11;22) (q23;q11) translocations: A prospective study. Int J Cancer. 145: 1493-1498. https://doi.org/10.1002/ijc.32031; PMid:30496607 PMCid:PMC6767470
Schwendemann WD, Contag SA, Koty PP, Miller RC, Devers P, Watson WJ. (2009). Ultrasound findings in trisomy 22. Am J Perinatol. 26: 135-137. https://doi.org/10.1055/s-0028-1091399; PMid:18850513
Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. (1999). Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet. 65: 1595-1607. https://doi.org/10.1086/302666; PMid:10577913 PMCid:PMC1288370
Soster E, Dyr B, Caldwell S, Sussman A, Magharyous H. (2023). Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory's Retrospective Experience. Genes (Basel). 14(10): 1924. https://doi.org/10.3390/genes14101924; PMid:37895273 PMCid:PMC10606745
Sou S, Takabayashi T, Sasaki H et al. (1987). Prenatal diagnosis of partial trisomy 22 derived from a maternal t(11;22)(q23;q11). Tohoku J Exp Med. 153: 389-393. https://doi.org/10.1620/tjem.153.389; PMid:3441929
Taddei E, Sartori E, Raio Bulgheroni L, Papadia A. (2021). Early detection of Emanuel syndrome: a case report. Case Reports in Perinatal Medicine. 10. https://doi.org/10.1515/crpm-2020-0049
Toyoshima M, Yonee C, Maegaki Y et al. (2009). Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. Am J Med Genet A. 149A: 1722-1726. https://doi.org/10.1002/ajmg.a.32762; PMid:19353589
Vriendt MDE, Rooryck C, Madar H, Coatleven F, Vincienne M, Prier P et al. (2025, Apr). Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimester. Acta Obstet Gynecol Scand. 104(4): 629-636. Epub 2025 Feb 17. https://doi.org/10.1111/aogs.15055; PMid:39962853 PMCid:PMC11919737
Walfisch A, Mills KE, Chodirker BN, Berger H. (2012). Prenatal screening characteristics in Emanuel syndrome: A case series and review of the literature. Arch Gynecol Obstet. 286: 299-302. https://doi.org/10.1007/s00404-012-2288-4; PMid:22434056
Xu L, Wang Z, Mao Q, Lu W. (2018). A case report for the fetus with Emanuel Syndrome. Chin J perinat Med. 21: 822‐824.
Zackai EH, Emanuel BS. (1980). Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet. 7: 507-521. https://doi.org/10.1002/ajmg.1320070412; PMid:7211960
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Ukrainian Journal of Perinatology and Pediatrics
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
The policy of the Journal “Ukrainian Journal of Perinatology and Pediatrics” is compatible with the vast majority of funders' of open access and self-archiving policies. The journal provides immediate open access route being convinced that everyone – not only scientists - can benefit from research results, and publishes articles exclusively under open access distribution, with a Creative Commons Attribution-Noncommercial 4.0 international license(СС BY-NC).
Authors transfer the copyright to the Journal “MODERN PEDIATRICS. UKRAINE” when the manuscript is accepted for publication. Authors declare that this manuscript has not been published nor is under simultaneous consideration for publication elsewhere. After publication, the articles become freely available on-line to the public.
Readers have the right to use, distribute, and reproduce articles in any medium, provided the articles and the journal are properly cited.
The use of published materials for commercial purposes is strongly prohibited.
