Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Prenatal diagnosis of 5p deletion syndrome: A case series report

  • Han, You Jung (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Kwak, Dong Wook (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine)
  • Received : 2017.05.21
  • Accepted : 2017.06.20
  • Published : 2017.06.30
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Abstract

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.

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References

  1. Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, et al. [3 cases of partial deletion of the short arm of a 5 chromosome]. C R Hebd Seances Acad Sci 1963;257:3098-102. French.
  2. Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978;44:227-75. https://doi.org/10.1007/BF00394291
  3. Overhauser J, McMahon J, Oberlender S, Carlin ME, Niebuhr E, Wasmuth JJ, et al. Parental origin of chromosome 5 deletions in the cridu-chat syndrome. Am J Med Genet 1990;37:83-6. https://doi.org/10.1002/ajmg.1320370119
  4. Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 1995;56:1162-72.
  5. Niebuhr E. Cytologic observations in 35 individuals with a 5p- karyotype. Hum Genet 1978;42:143-56.
  6. Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ. A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p. Genome Res 1997;7:787-801. https://doi.org/10.1101/gr.7.8.787
  7. Medina M, Marinescu RC, Overhauser J, Kosik KS. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 2000;63:157-64. https://doi.org/10.1006/geno.1999.6090
  8. Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, et al. The clinical significance of small copy number variants in neurodevelopmental disorders. J Med Genet 2014;51:677-88. https://doi.org/10.1136/jmedgenet-2014-102588
  9. Wu Q, Niebuhr E, Yang H, Hansen L. Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Hum Genet 2005;13:475-85. https://doi.org/10.1038/sj.ejhg.5201345
  10. Simmons AD, Puschel AW, McPherson JD, Overhauser J, Lovett M. Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval. Biochem Biophys Res Commun 1998;242:685-91. https://doi.org/10.1006/bbrc.1997.8027
  11. Zhang A, Zheng C, Hou M, Lindvall C, Li KJ, Erlandsson F, et al. Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. Am J Hum Genet 2003;72:940-8. https://doi.org/10.1086/374565
  12. Tullu MS, Muranjan MN, Sharma SV, Sahu DR, Swami SR, Deshmukh CT, et al. Cri-du-chat syndrome: clinical profile and prenatal diagnosis. J Postgrad Med 1998;44:101-4.
  13. Aoky S, Hata T, Hata K, Miyazaki K. Antenatal sonographic features of cri du chat syndrome. Ultrasound Obstet Gynecol 1999;13:216-7. https://doi.org/10.1046/j.1469-0705.1999.13030216.x
  14. Stefanou EG, Hanna G, Foakes A, Crocker M, Fitchett M. Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly. Prenat Diagn 2002;22:64-6. https://doi.org/10.1002/pd.243
  15. Vialard F, Robyr R, Hillion Y, Molina Gomes D, Selva J, Ville Y. Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. Prenat Diagn 2005;25:311-3. https://doi.org/10.1002/pd.1130
  16. Chen CP, Lee CC, Chang TY, Town DD, Wang W. Prenatal diagnosis of mosaic distal 5p deletion and review of the literature. Prenat Diagn 2004;24:50-7. https://doi.org/10.1002/pd.794
  17. Teoh XH, Tan TY, Chow KK, Lee IW. Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers. Singapore Med J 2009;50:e181-4.
  18. Li DZ, Yi CX. Prenatal diagnosis of Cri du Chat syndrome: four cases report. J Matern Fetal Neonatal Med 2012;25:2799. https://doi.org/10.3109/14767058.2012.704452