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Double Trisomy (48,XXX,+21) in an Child with Down Syndrome: A Case Report

Year 2013, Volume: 18 Issue: 2, 126 - 129, 01.04.2013

Abstract

Double trisomy is the presence of two numerical chromosomal abnormalities together. Since the most cases result in spontaneous abortus this is a rare situation. It generally arises by non-disjunction at either the first or second meiotic division. Down syndrome that is known as Trisomy 21 is the most common chromosomal aneuploidy and also the most common genetic reason of mental retardation. The case was sent to our laboratuary of medical genetics because of clinical features of Down syndrome. Conventional cytogenetic techniques were performed for this case. The karyotypes of our case were found as 48, XXX+21. The karyotypes of the parents were normal. In this study, it is aimed to discuss a rare double trisomy case and to compare our results with previous studies.

References

  • Balwan WK, Kumar P, Raina TR, Gupta S. Double trisomy with 48, XXX+21 karyotype in a Down's syndrome child from Jammu and Kashmir, India. J Genet 2008; 87: 257-9.
  • Sanz-Cortes M, Raga F, Cuesta A, Claramunt R, BonillaMusoles F. Prenatally detected double trisomy: Klinefelter and Down syndrome. Prenat Diagn 2006; 26: 1078-80.
  • Bugge M, Collins A, Petersen MB, et al. Non-disjunction of chromosome 18. Hum Mol Genet 1998; 7: 661-9.
  • Ballesta F, Queralt R, Gomez D, et al. Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21. Ann Gene. 1999; 42: 11-5.
  • Iliopoulos D, Poultsides G, Peristeri V, Kouri G, Andreou A, Voyiatzis N. Double trisomy (48,XXY,+21) in monozygotic twins: case report and review of the literature. Ann Genet 2004; 47: 95-8.
  • Reddy KS. Double trisomy in spontaneous abortions. Hum Genet 1997; 101: 339-45.
  • Shin M, Besser LM, Kucik JE, Lu C, Siffel C, Correa A. Prevalence of Down syndrome among children and adolescents in 10 regions of the United States. Pediatrics 2009; 124: 1565-71.
  • Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Anneren G. Thyroid dysfunction in Down's syndrome: relation to age and thyroid autoimmunity. Arch Dis Child. 1998 Sep;79(3):242-5.
  • Bray I, Wright DE, Davies C, Hook EB. Joint estimation of Down syndrome risk and ascertainment rates: a meta-analysis of nine published data sets. Prenat Diagn 1998; 18: 9-20.
  • Nicolaidis P, Petersen MB. Origin and mechanisms of nondisjunction in human autosomal trisomies. Hum Reprod 1998; 13: 313-9.
  • Li QY, Tsukishiro S, Nakagawa C, et al. Parental origin and cell stage of non-disjunction of double trisomy in spontaneous abortion. Congenit Anom (Kyoto) 2005; 45: 21-5.
  • Micale M, Insko J, Ebrahim SA, Adeyinka A, Runke C, Van Dyke DL. Double trisomy revisited--a multicenter experience. Prenat Diagn 2010; 30: 173-6.
  • Korucuoglu U, Erdem M, Pala E, Karaoguz MY, Erdem A, Biri A. Double aneuploidy in spontaneous miscarriages: two case reports and review of the literature. Fetal Diagn Ther 2008; 24: 106-10.
  • Hoang MP, Wilson KS, Schneider NR, Timmons CF. Case report of a 22-week fetus with 47,XXX karyotype and multiple lower mesodermal defects. Pediatr Dev Pathol 1999; 2: 58-61.
  • Patterson D. Molecular genetic analysis of Down syndrome. Hum Genet 2009; 126: 195-214.
  • Alfi OS, Chang R, Azen SP. Evidence for genetic control of nondisjunction in man. Am J Hum Genet 1980; 32: 477-83.
  • Robinson WP, McFadden DE, Stephenson MD. The origin of abnormalities in recurrent aneuploidy/polyploidy. Am J Hum Genet 2001; 69: 1245-54.
  • Micale M, Insko J, Ebrahim SA, Adeyinka A, Runke C, Van Dyke DL. Double trisomy revisited--a multicenter experience. Prenat Diagn 2010; 30: 173-6.
  • Nadal M, Moreno S, Pritchard M, Preciado MA, Estivill X, Ramos-Arroyo MA. Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH. J Med Genet 1997; 34: 50-4.
  • Karaman A, Kabalar E. Double aneuploidy in a Turkish child: Down-Klinefelter syndrome. Congenit Anom (Kyoto) 2008; 48: 45-7.

Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu

Year 2013, Volume: 18 Issue: 2, 126 - 129, 01.04.2013

Abstract

Double trizomi, iki sayısal komozom anomalisinin birlikte bulunmasıdır. Bu olguların çoğu spontan düşükle sonuçlandığından nadir görülen bir durumdur. Double trizomi, genellikle ya birinci veya ikinci mayoz bölünme sırasında non-disjunction sonucu ortaya çıkar. Trizomi 21 olarakta bilinen Down sendromu, en yaygın kromozomal anöploidisi ve mental retardasyonun da en sık genetik nedenidir. Down sendromu ön tanısıyla laboratuarımıza gönderilen olguya, konvansiyonel sitogenetik teknikler ile incelemesi yapıldı. Olgunun karyotipi, 48, XXX+21 olarak tespit edildi. Ailenin sitogenetik incelemesi normaldi. Bu çalışmada nadir görülen double trizomi olgusunu tartışmayı ve daha önceki çalışmalarla sonuçlarımızı karşılaştırmayı amaçladık.

References

  • Balwan WK, Kumar P, Raina TR, Gupta S. Double trisomy with 48, XXX+21 karyotype in a Down's syndrome child from Jammu and Kashmir, India. J Genet 2008; 87: 257-9.
  • Sanz-Cortes M, Raga F, Cuesta A, Claramunt R, BonillaMusoles F. Prenatally detected double trisomy: Klinefelter and Down syndrome. Prenat Diagn 2006; 26: 1078-80.
  • Bugge M, Collins A, Petersen MB, et al. Non-disjunction of chromosome 18. Hum Mol Genet 1998; 7: 661-9.
  • Ballesta F, Queralt R, Gomez D, et al. Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21. Ann Gene. 1999; 42: 11-5.
  • Iliopoulos D, Poultsides G, Peristeri V, Kouri G, Andreou A, Voyiatzis N. Double trisomy (48,XXY,+21) in monozygotic twins: case report and review of the literature. Ann Genet 2004; 47: 95-8.
  • Reddy KS. Double trisomy in spontaneous abortions. Hum Genet 1997; 101: 339-45.
  • Shin M, Besser LM, Kucik JE, Lu C, Siffel C, Correa A. Prevalence of Down syndrome among children and adolescents in 10 regions of the United States. Pediatrics 2009; 124: 1565-71.
  • Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Anneren G. Thyroid dysfunction in Down's syndrome: relation to age and thyroid autoimmunity. Arch Dis Child. 1998 Sep;79(3):242-5.
  • Bray I, Wright DE, Davies C, Hook EB. Joint estimation of Down syndrome risk and ascertainment rates: a meta-analysis of nine published data sets. Prenat Diagn 1998; 18: 9-20.
  • Nicolaidis P, Petersen MB. Origin and mechanisms of nondisjunction in human autosomal trisomies. Hum Reprod 1998; 13: 313-9.
  • Li QY, Tsukishiro S, Nakagawa C, et al. Parental origin and cell stage of non-disjunction of double trisomy in spontaneous abortion. Congenit Anom (Kyoto) 2005; 45: 21-5.
  • Micale M, Insko J, Ebrahim SA, Adeyinka A, Runke C, Van Dyke DL. Double trisomy revisited--a multicenter experience. Prenat Diagn 2010; 30: 173-6.
  • Korucuoglu U, Erdem M, Pala E, Karaoguz MY, Erdem A, Biri A. Double aneuploidy in spontaneous miscarriages: two case reports and review of the literature. Fetal Diagn Ther 2008; 24: 106-10.
  • Hoang MP, Wilson KS, Schneider NR, Timmons CF. Case report of a 22-week fetus with 47,XXX karyotype and multiple lower mesodermal defects. Pediatr Dev Pathol 1999; 2: 58-61.
  • Patterson D. Molecular genetic analysis of Down syndrome. Hum Genet 2009; 126: 195-214.
  • Alfi OS, Chang R, Azen SP. Evidence for genetic control of nondisjunction in man. Am J Hum Genet 1980; 32: 477-83.
  • Robinson WP, McFadden DE, Stephenson MD. The origin of abnormalities in recurrent aneuploidy/polyploidy. Am J Hum Genet 2001; 69: 1245-54.
  • Micale M, Insko J, Ebrahim SA, Adeyinka A, Runke C, Van Dyke DL. Double trisomy revisited--a multicenter experience. Prenat Diagn 2010; 30: 173-6.
  • Nadal M, Moreno S, Pritchard M, Preciado MA, Estivill X, Ramos-Arroyo MA. Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH. J Med Genet 1997; 34: 50-4.
  • Karaman A, Kabalar E. Double aneuploidy in a Turkish child: Down-Klinefelter syndrome. Congenit Anom (Kyoto) 2008; 48: 45-7.
There are 20 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Murat Kara This is me

Kürşat Kargün This is me

Halil Köse This is me

Abdullah Denizmen Aygün This is me

Aşkın Şen This is me

Publication Date April 1, 2013
Published in Issue Year 2013 Volume: 18 Issue: 2

Cite

APA Kara, M., Kargün, K., Köse, H., Aygün, A. D., et al. (2013). Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu. Fırat Tıp Dergisi, 18(2), 126-129.
AMA Kara M, Kargün K, Köse H, Aygün AD, Şen A. Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu. Fırat Tıp Dergisi. April 2013;18(2):126-129.
Chicago Kara, Murat, Kürşat Kargün, Halil Köse, Abdullah Denizmen Aygün, and Aşkın Şen. “Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu”. Fırat Tıp Dergisi 18, no. 2 (April 2013): 126-29.
EndNote Kara M, Kargün K, Köse H, Aygün AD, Şen A (April 1, 2013) Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu. Fırat Tıp Dergisi 18 2 126–129.
IEEE M. Kara, K. Kargün, H. Köse, A. D. Aygün, and A. Şen, “Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu”, Fırat Tıp Dergisi, vol. 18, no. 2, pp. 126–129, 2013.
ISNAD Kara, Murat et al. “Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu”. Fırat Tıp Dergisi 18/2 (April 2013), 126-129.
JAMA Kara M, Kargün K, Köse H, Aygün AD, Şen A. Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu. Fırat Tıp Dergisi. 2013;18:126–129.
MLA Kara, Murat et al. “Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu”. Fırat Tıp Dergisi, vol. 18, no. 2, 2013, pp. 126-9.
Vancouver Kara M, Kargün K, Köse H, Aygün AD, Şen A. Double Trizomiye (48,XXX,+21) Sahip Down Sendromlu Bir Çocuk: Olgu Sunumu. Fırat Tıp Dergisi. 2013;18(2):126-9.