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Robertsonian translocation Down syndrome

MedGen UID:
1816520
•Concept ID:
C5707615
•
Disease or Syndrome
Synonym: Robertsonian Translocation Down Syndrome
 
Monarch Initiative: MONDO:0700082

Definition

Down syndrome caused by translocation of the long arm of chromosome 21, resulting in trisomy 21. [from NCI]

Recent clinical studies

Etiology

Chromosomal abnormalities of 19,000 couples with recurrent spontaneous abortions: a multicenter study.
Park SJ, Min JY, Kang JS, Yang BG, Hwang SY, Han SH
Fertil Steril 2022 May;117(5):1015-1025. Epub 2022 Feb 23 doi: 10.1016/j.fertnstert.2022.01.011. PMID: 35216835
Molecular Cytogenetic Classification of Down Syndrome and Screening of Somatic Aneuploidy in Mothers.
Jaiswal SK, Kumar A, Rai AK
Cytogenet Genome Res 2021;161(8-9):397-405. Epub 2021 Nov 9 doi: 10.1159/000519624. PMID: 34753128
Historical and Clinical Perspectives on Chromosomal Translocations.
Wilch ES, Morton CC
Adv Exp Med Biol 2018;1044:1-14. doi: 10.1007/978-981-13-0593-1_1. PMID: 29956287
Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations.
Kim SR, Shaffer LG
Genet Test 2002 Fall;6(3):163-8. doi: 10.1089/109065702761403315. PMID: 12490055
Reproductive risk of t(13q14q) carriers: case report and review.
Harris DJ, Hankins L, Begleiter ML
Am J Med Genet 1979;3(2):175-81. doi: 10.1002/ajmg.1320030208. PMID: 157697

Diagnosis

Rapid diagnosis of maternal origin of de novo fetal Robertsonian translocation down syndrome of 46,XY,der(13;21)(q10;q10),+21 by quantitative fluorescent polymerase chain reaction in a pregnancy associated with increased nuchal translucency and an abnormal result of first-trimester maternal serum screening.
Chen CP
Taiwan J Obstet Gynecol 2024 Jan;63(1):120-121. doi: 10.1016/j.tjog.2023.10.013. PMID: 38216250
Birth of a Mosaic Non–Down Syndrome Offspring to a 45,XY,t(21;21)(q10;q10) Homologous Robertsonian Translocation Carrier: A Case Report.
Yan J, Zhang Q, Chen Y, Chen ZJ
J Reprod Med 2017 May-Jun;62(5-6):337-41. PMID: 30028100
Prenatal diagnosis of Down syndrome: A 13-year retrospective study.
Vičić A, Hafner T, Bekavac Vlatković I, Korać P, Habek D, Stipoljev F
Taiwan J Obstet Gynecol 2017 Dec;56(6):731-735. doi: 10.1016/j.tjog.2017.10.004. PMID: 29241910
Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations.
Kim SR, Shaffer LG
Genet Test 2002 Fall;6(3):163-8. doi: 10.1089/109065702761403315. PMID: 12490055
A case report of Down syndrome and centroblastic lymphoma.
Satge D, Le Tourneau A, Verger JP, Lefort S, Geneix A, Malet P, Diebold J, Vekemans M
Pathol Res Pract 1996 Dec;192(12):1266-9. doi: 10.1016/S0344-0338(96)80165-8. PMID: 9182298

Therapy

Survival among people with Down syndrome: a nationwide population-based study in Denmark.
Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, Rasmussen SA
Genet Med 2013 Jan;15(1):64-9. Epub 2012 Aug 9 doi: 10.1038/gim.2012.93. PMID: 22878506Free PMC Article
Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies.
Langlois S, Duncan A; SOGC GENETICS COMMITTEE; CCMG PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2011 Sep;33(9):955-960. doi: 10.1016/S1701-2163(16)35022-8. PMID: 21923994
Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.
Quiroga R, Roselló M, Martinez F, Ferrer-Bolufer I, Monfort S, Oltra S, Hernandez MC, Orellana C
Reprod Biomed Online 2009 Sep;19(3):415-7. doi: 10.1016/s1472-6483(10)60177-0. PMID: 19778489

Prognosis

B-cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21.
Verdoni AM, Zilla ML, Bullock G, Guinipero TL, Meade J, Yatsenko SA
Am J Med Genet A 2022 Aug;188(8):2325-2330. Epub 2022 Jun 9 doi: 10.1002/ajmg.a.62864. PMID: 35678493
Molecular Cytogenetic Classification of Down Syndrome and Screening of Somatic Aneuploidy in Mothers.
Jaiswal SK, Kumar A, Rai AK
Cytogenet Genome Res 2021;161(8-9):397-405. Epub 2021 Nov 9 doi: 10.1159/000519624. PMID: 34753128
Survival among people with Down syndrome: a nationwide population-based study in Denmark.
Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, Rasmussen SA
Genet Med 2013 Jan;15(1):64-9. Epub 2012 Aug 9 doi: 10.1038/gim.2012.93. PMID: 22878506Free PMC Article
Meiotic segregation of Robertsonian translocations ascertained in cleavage-stage embryos--implications for preimplantation genetic diagnosis.
Bint SM, Ogilvie CM, Flinter FA, Khalaf Y, Scriven PN
Hum Reprod 2011 Jun;26(6):1575-84. Epub 2011 Mar 25 doi: 10.1093/humrep/der080. PMID: 21441546
A case report of Down syndrome and centroblastic lymphoma.
Satge D, Le Tourneau A, Verger JP, Lefort S, Geneix A, Malet P, Diebold J, Vekemans M
Pathol Res Pract 1996 Dec;192(12):1266-9. doi: 10.1016/S0344-0338(96)80165-8. PMID: 9182298

Clinical prediction guides

A working model for the formation of Robertsonian chromosomes.
Gerton JL
J Cell Sci 2024 Apr 1;137(7) Epub 2024 Apr 12 doi: 10.1242/jcs.261912. PMID: 38606789Free PMC Article
Chromosomal abnormalities of 19,000 couples with recurrent spontaneous abortions: a multicenter study.
Park SJ, Min JY, Kang JS, Yang BG, Hwang SY, Han SH
Fertil Steril 2022 May;117(5):1015-1025. Epub 2022 Feb 23 doi: 10.1016/j.fertnstert.2022.01.011. PMID: 35216835
Molecular Cytogenetic Classification of Down Syndrome and Screening of Somatic Aneuploidy in Mothers.
Jaiswal SK, Kumar A, Rai AK
Cytogenet Genome Res 2021;161(8-9):397-405. Epub 2021 Nov 9 doi: 10.1159/000519624. PMID: 34753128
Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies.
Langlois S, Duncan A; SOGC GENETICS COMMITTEE; CCMG PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2011 Sep;33(9):955-960. doi: 10.1016/S1701-2163(16)35022-8. PMID: 21923994
Homologous Robertsonian translocation (21q21q) and abortions.
Sudha T, Gopinath PM
Hum Genet 1990 Jul;85(2):253-5. doi: 10.1007/BF00193208. PMID: 2142474

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