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Reciprocal translocation down syndrome

MedGen UID:
994147
•Concept ID:
CN315930
•
Disease or Syndrome
Synonym: reciprocal translocation down syndrome
 
Monarch Initiative: MONDO:0700083

Definition

Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. [from MONDO]

Professional guidelines

PubMed

First-trimester combined screening is effective for the detection of unbalanced chromosomal translocations at 11 to 12 weeks of gestation.
Huang S, Chang C, Cheng P, Hsiao C, Soong Y, Duan T
Reprod Sci 2014 May;21(5):594-600. Epub 2013 Oct 31 doi: 10.1177/1933719113508818. PMID: 24177714Free PMC Article
Prenatal diagnosis of an autosomal translocation with regular trisomy 21.
Tunca Y, Deveci MS, Koc A, Kaya H, Alanbay I, Coksuer H, Dede M
Fetal Pediatr Pathol 2013 Jun;32(3):210-2. Epub 2013 Jan 10 doi: 10.3109/15513815.2012.721474. PMID: 23301917
Is rapid aneuploidy screening used alone acceptable in prenatal diagnosis? An evaluation of the possible role of ultrasound examination.
Gaudry P, Lebbar A, Choiset A, Girard S, Lewin F, Tsatsaris V, Grangé G
Fetal Diagn Ther 2009;25(2):285-90. Epub 2009 Jun 11 doi: 10.1159/000224429. PMID: 19521096

Recent clinical studies

Etiology

Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.
Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Wang W
Taiwan J Obstet Gynecol 2021 Jul;60(4):775-777. doi: 10.1016/j.tjog.2021.05.034. PMID: 34247824
The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.
Paththinige CS, Sirisena ND, Kariyawasam UGIU, Dissanayake VHW
Biomed Res Int 2019;2019:9797104. Epub 2019 Apr 2 doi: 10.1155/2019/9797104. PMID: 31061830Free PMC Article
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
Maternal serum screening in cases of mosaic and translocation Down syndrome.
Dreux S, Olivier C, Dupont JM, Leporrier N; Study Group, Oury JF, Muller F
Prenat Diagn 2008 Aug;28(8):699-703. doi: 10.1002/pd.2051. PMID: 18615544
Familial translocation t(3p-;21q+) associated with both Down's and Sturge-Weber's syndrome in unbalanced state.
Habedank M, Kampe G
Humangenetik 1975 Sep 23;29(3):207-16. doi: 10.1007/BF00297625. PMID: 126210

Diagnosis

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.
Popescu R, Grămescu M, Caba L, Pânzaru MC, Butnariu L, Braha E, Popa S, Rusu C, Cardos G, Zeleniuc M, Martiniuc V, Gug C, Păduraru L, Stamatin M, Diaconu CC, Gorduza EV
Genes (Basel) 2021 Dec 7;12(12) doi: 10.3390/genes12121957. PMID: 34946906Free PMC Article
Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.
Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Wang W
Taiwan J Obstet Gynecol 2021 Jul;60(4):775-777. doi: 10.1016/j.tjog.2021.05.034. PMID: 34247824
Prenatal diagnosis of an autosomal translocation with regular trisomy 21.
Tunca Y, Deveci MS, Koc A, Kaya H, Alanbay I, Coksuer H, Dede M
Fetal Pediatr Pathol 2013 Jun;32(3):210-2. Epub 2013 Jan 10 doi: 10.3109/15513815.2012.721474. PMID: 23301917
Maternal serum screening in cases of mosaic and translocation Down syndrome.
Dreux S, Olivier C, Dupont JM, Leporrier N; Study Group, Oury JF, Muller F
Prenat Diagn 2008 Aug;28(8):699-703. doi: 10.1002/pd.2051. PMID: 18615544
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.
Chen CP, Chern SR, Wang W, Lee CC, Chen WL, Chen LF, Chang TY, Tzen CY
Prenat Diagn 2001 May;21(5):346-50. doi: 10.1002/pd.63. PMID: 11360273

Therapy

Acute Lymphoblastic Leukemia With INPP5D-ABL1 Fusion Responds to Imatinib Treatment.
Poukka M, Lund-Aho T, Raittinen P, Nikkilä A, Kivinen K, Lundán T, Porkka K, Lohi O
J Pediatr Hematol Oncol 2019 Oct;41(7):e481-e483. doi: 10.1097/MPH.0000000000001267. PMID: 30045148
Hyaluronan oligomers sensitize chronic myeloid leukemia cell lines to the effect of Imatinib.
Lompardía SL, Díaz M, Papademetrio DL, Mascaró M, Pibuel M, Álvarez E, Hajos SE
Glycobiology 2016 Apr;26(4):343-52. Epub 2015 Nov 17 doi: 10.1093/glycob/cwv107. PMID: 26582603

Prognosis

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.
Popescu R, Grămescu M, Caba L, Pânzaru MC, Butnariu L, Braha E, Popa S, Rusu C, Cardos G, Zeleniuc M, Martiniuc V, Gug C, Păduraru L, Stamatin M, Diaconu CC, Gorduza EV
Genes (Basel) 2021 Dec 7;12(12) doi: 10.3390/genes12121957. PMID: 34946906Free PMC Article
First-trimester combined screening is effective for the detection of unbalanced chromosomal translocations at 11 to 12 weeks of gestation.
Huang S, Chang C, Cheng P, Hsiao C, Soong Y, Duan T
Reprod Sci 2014 May;21(5):594-600. Epub 2013 Oct 31 doi: 10.1177/1933719113508818. PMID: 24177714Free PMC Article
Chromosomal abnormalities and reproductive outcome in Malaysian couples with miscarriages.
Pal S, Ma SO, Norhasimah M, Suhaida MA, Siti Mariam I, Ankathil R, Zilfalil BA
Singapore Med J 2009 Oct;50(10):1008-12. PMID: 19907893
Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses.
Han SH, An JW, Jeong GY, Yoon HR, Lee A, Yang YH, Lee KP, Lee KR
Korean J Lab Med 2008 Oct;28(5):378-85. doi: 10.3343/kjlm.2008.28.5.378. PMID: 18971619
Subtle translocation (18;21) confirmed by FISH in a patient with Down syndrome.
Knight LA, Yong MH, Tan M, Ng IS
Clin Genet 1996 Nov;50(5):430-2. doi: 10.1111/j.1399-0004.1996.tb02402.x. PMID: 9007338

Clinical prediction guides

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.
Paththinige CS, Sirisena ND, Kariyawasam UGIU, Dissanayake VHW
Biomed Res Int 2019;2019:9797104. Epub 2019 Apr 2 doi: 10.1155/2019/9797104. PMID: 31061830Free PMC Article
First-trimester combined screening is effective for the detection of unbalanced chromosomal translocations at 11 to 12 weeks of gestation.
Huang S, Chang C, Cheng P, Hsiao C, Soong Y, Duan T
Reprod Sci 2014 May;21(5):594-600. Epub 2013 Oct 31 doi: 10.1177/1933719113508818. PMID: 24177714Free PMC Article
Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses.
Han SH, An JW, Jeong GY, Yoon HR, Lee A, Yang YH, Lee KP, Lee KR
Korean J Lab Med 2008 Oct;28(5):378-85. doi: 10.3343/kjlm.2008.28.5.378. PMID: 18971619
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.
Chen CP, Chern SR, Wang W, Lee CC, Chen WL, Chen LF, Chang TY, Tzen CY
Prenat Diagn 2001 May;21(5):346-50. doi: 10.1002/pd.63. PMID: 11360273
Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.
Williams JD, Summitt RL, Martens PR, Kimbrell RA
Am J Hum Genet 1975 Jul;27(4):478-85. PMID: 125542Free PMC Article

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