DOI QR코드

DOI QR Code

Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

  • Park, Sang Hee (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Shim, Sung Han (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Jung, Yong Wook (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Shim, So Hyun (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Chin, Mi Uk (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Park, Ji Eun (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Bae, Sung Mi (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Lyu, Sang Woo (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Cha, Dong Hyun (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University)
  • Received : 2017.06.09
  • Accepted : 2017.06.24
  • Published : 2017.06.30

Abstract

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

Keywords

References

  1. Chen H. Atlas of genetic diagnosis and counseling. New York: Springer, 2012.
  2. Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, et al. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns 2001;12:273-82.
  3. Jedraszak G, Receveur A, Andrieux J, Naepels P, Mathieu-Dramard M, Bremond-Gignac D, et al. A severe prenatal presentation of Cat Eye Syndrome. Clin Dysmorphol 2013;22:175-7. https://doi.org/10.1097/MCD.0000000000000011
  4. Ko JM, Kim JB, Pai KS, Yun JN, Park SJ. Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. J Korean Med Sci 2010;25:1798-801. https://doi.org/10.3346/jkms.2010.25.12.1798
  5. Mears AJ, Duncan AM, Budarf ML, Emanuel BS, Sellinger B, Siegel-Bartelt J, et al. Molecular characterization of the marker chromosome associated with cat eye syndrome. Am J Hum Genet 1994;55:134-42.
  6. Oruganti VP, Vidyadhari M, Buddhavarapu P, Kandukuri LR. Fetal loss: a genetic insight of the de novo accessory Bi-Satellited marker of chromosome 22P. J Genet Syndr Ther 2015;6:259.
  7. Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am J Hum Genet 1995;57:667-73.
  8. Quintero-Rivera F, Martinez-Agosto JA. Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. Am J Med Genet A 2013;161A:1985-91.
  9. Volpe P, Buonadonna AL, Campobasso G, Di Carlo A, Stanziano A, Gentile M. Cat-eye syndrome in a fetus with increased nuchal translucency: three-dimensional ultrasound and echocardiographic evaluation of the fetal phenotype. Ultrasound Obstet Gynecol 2004;24:485-7. https://doi.org/10.1002/uog.1723
  10. Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S. Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance. Prenat Diagn 2006;26:1142-50. https://doi.org/10.1002/pd.1575
  11. Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ. Phenotypic variability of Cat-Eye syndrome. Genet Couns 2001;12:23-34.
  12. Royal ABP, Hegde S, Radhakrishnan P, Prathima R, Jayaprakash. Importance of ear and face abnormalities in cat eye syndrome - A prenatal and postnatal report. Eur J Biotechnol Bioscience 2014;1:12-5.
  13. Ginsberg NA, Cohen L, Dungan JS, Concialdi S, Mangers K, Shulman LP. 3-D ultrasound of the fetal ear and fetal autosomal trisomies: a pilot study of a new screening protocol. Prenat Diagn 2011;31:311-4. https://doi.org/10.1002/pd.2701
  14. Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR. A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes. Am J Med Genet 1997;72:440-7. https://doi.org/10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R
  15. Knoll JH, Asamoah A, Pletcher BA, Wagstaff J. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome. Am J Med Genet 1995;55:221-4. https://doi.org/10.1002/ajmg.1320550214
  16. Zhang J, Ma D, Wang Y, Cao L, Wu Y, Qiao F, et al. Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect. Mol Cytogenet 2015;8:100. https://doi.org/10.1186/s13039-015-0209-5