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Trisomy 8 mosaicism: A Case Report

Year 2018, Volume: 49 Issue: 1, 92 - 93, 05.03.2018
https://doi.org/10.16948/zktipb.268649

Abstract

Warkany
syndrome 2 or trisomy 8 mosaicism is a well-described, but very rare,
chromosomal abnormality. The phenotype is extremely variable ranging
from normal to a severe malformation syndrome. Because of the broad
spectrum of clinical findings, this condition is often
underdiagnosed. Trisomy 8 mosaicism can affect several organs causing
intracranial, genitourinary and skeletal system anomalies, congenital
cardiovascular disorders, deep palmar and plantar creases, and
neoplastic and hematological disorders. Here, we report trisomy 8
mosaicism in a 3-year-old boy evaluated for facial dysmorphism and
delayed development. 

References

  • 1. Jordan MA, Marques I, Rosendorff J, de Ravel TJ. Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability. Genet Couns 1998;9:139–146.
  • 2. Wisniewska M, Mazurek M. Trisomy 8 mosaicism syndrome. J Appl Genet 2002;43:115–118.
  • 3. Chen CP, Chen M, Pan YJ, Su YN, Chern SR, Tsai FJ, et al. Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. Taiwan J Obstet Gynecol 2011;50:331–338.
  • 4. Gün I, Akpak YK, Müngen E. Common sonographic characteristics of trisomy 8 mosaicism. Int J Gynaecol Obstet 2012;119:85–86.
  • 5. Wood E, Dowey S, Saul D, Cain C, Rossiter J, Blakemore K, et al. Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH. Am J Med Genet A 2008;146A:764–769.
  • 6. Glenn OA, Barkovich AJ. Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis, part 1. AJNR Am J Neuroradiol 2006;27:1604–1611.
  • 7. Pugash D, Brugger PC, Bettelheim D, Prayer D. Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis. Eur J Radiol 2008;68:214–226.
  • 8. Glenn O, Goldstein RB, Li KC, Young SJ, Norton ME, Buse RF, et al. Fetal magnetic resonance imaging in the evaluation of fetuses referred for sonographically suspected abnormalities of the corpus callosum. J Ultrasound Med 2005;24:791–804.
  • 9. M. M. Van Haelst, D. Van Opstal, D. Lindhout, F J. Los, “Management of prenatally detected trisomy 8 mosaicism’’. Prenatal Diagnosis 2001;21(12): 1075–1078.
  • 10. Aykut A, Cogulu O, Ozkinay F. Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney. J Genet. Couns. 2012;23:17-80.
  • 11. M. Wi´sniewska and M. Mazurek, “Trisomy 8 mosaicism syndrome,” Journal of Applied Genetics 2002;43(1)115–118.

Trizomi 8 mosaisizmi: Bir Olgu Sunumu

Year 2018, Volume: 49 Issue: 1, 92 - 93, 05.03.2018
https://doi.org/10.16948/zktipb.268649

Abstract

Warkany sendromu 2 veya Trizomi 8 mosaisizmi
iyi tanımlanmış, ancak çok nadir, kromozomal anomalidir. Fenotip normal ile
şiddetli malformasyon sendromu arasında son derece değişkenlik gösterir. Geniş
klinik bulgular yelpazesi nedeniyle, tanı atlanabilir. Trizomi 8 mosaisizmi pek
çok organ sistemini etkileyerek intrakraniyal, genitoüriner ve iskelet sistemi
anomalileri, konjenital kardiyovasküler bozukluklar, derin palmar ve plantar
kıvrımlar, neoplastik ve hematolojik bozukluklara sebep olabilir. Burada dismorfik
yüz ve gecikmiş gelişim nedeniyle değerlendirilen 3 yaşındaki bir erkek çocukta
saptanan Trizomi 8 mosaisizmi sunulmaktadır.

References

  • 1. Jordan MA, Marques I, Rosendorff J, de Ravel TJ. Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability. Genet Couns 1998;9:139–146.
  • 2. Wisniewska M, Mazurek M. Trisomy 8 mosaicism syndrome. J Appl Genet 2002;43:115–118.
  • 3. Chen CP, Chen M, Pan YJ, Su YN, Chern SR, Tsai FJ, et al. Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. Taiwan J Obstet Gynecol 2011;50:331–338.
  • 4. Gün I, Akpak YK, Müngen E. Common sonographic characteristics of trisomy 8 mosaicism. Int J Gynaecol Obstet 2012;119:85–86.
  • 5. Wood E, Dowey S, Saul D, Cain C, Rossiter J, Blakemore K, et al. Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH. Am J Med Genet A 2008;146A:764–769.
  • 6. Glenn OA, Barkovich AJ. Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis, part 1. AJNR Am J Neuroradiol 2006;27:1604–1611.
  • 7. Pugash D, Brugger PC, Bettelheim D, Prayer D. Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis. Eur J Radiol 2008;68:214–226.
  • 8. Glenn O, Goldstein RB, Li KC, Young SJ, Norton ME, Buse RF, et al. Fetal magnetic resonance imaging in the evaluation of fetuses referred for sonographically suspected abnormalities of the corpus callosum. J Ultrasound Med 2005;24:791–804.
  • 9. M. M. Van Haelst, D. Van Opstal, D. Lindhout, F J. Los, “Management of prenatally detected trisomy 8 mosaicism’’. Prenatal Diagnosis 2001;21(12): 1075–1078.
  • 10. Aykut A, Cogulu O, Ozkinay F. Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney. J Genet. Couns. 2012;23:17-80.
  • 11. M. Wi´sniewska and M. Mazurek, “Trisomy 8 mosaicism syndrome,” Journal of Applied Genetics 2002;43(1)115–118.
There are 11 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Report
Authors

Ali Karaman

Publication Date March 5, 2018
Published in Issue Year 2018 Volume: 49 Issue: 1

Cite

APA Karaman, A. (2018). Trisomy 8 mosaicism: A Case Report. Zeynep Kamil Tıp Bülteni, 49(1), 92-93. https://doi.org/10.16948/zktipb.268649
AMA Karaman A. Trisomy 8 mosaicism: A Case Report. Zeynep Kamil Tıp Bülteni. March 2018;49(1):92-93. doi:10.16948/zktipb.268649
Chicago Karaman, Ali. “Trisomy 8 Mosaicism: A Case Report”. Zeynep Kamil Tıp Bülteni 49, no. 1 (March 2018): 92-93. https://doi.org/10.16948/zktipb.268649.
EndNote Karaman A (March 1, 2018) Trisomy 8 mosaicism: A Case Report. Zeynep Kamil Tıp Bülteni 49 1 92–93.
IEEE A. Karaman, “Trisomy 8 mosaicism: A Case Report”, Zeynep Kamil Tıp Bülteni, vol. 49, no. 1, pp. 92–93, 2018, doi: 10.16948/zktipb.268649.
ISNAD Karaman, Ali. “Trisomy 8 Mosaicism: A Case Report”. Zeynep Kamil Tıp Bülteni 49/1 (March 2018), 92-93. https://doi.org/10.16948/zktipb.268649.
JAMA Karaman A. Trisomy 8 mosaicism: A Case Report. Zeynep Kamil Tıp Bülteni. 2018;49:92–93.
MLA Karaman, Ali. “Trisomy 8 Mosaicism: A Case Report”. Zeynep Kamil Tıp Bülteni, vol. 49, no. 1, 2018, pp. 92-93, doi:10.16948/zktipb.268649.
Vancouver Karaman A. Trisomy 8 mosaicism: A Case Report. Zeynep Kamil Tıp Bülteni. 2018;49(1):92-3.