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Unbalanced Robertsonian translocation Down syndrome

MedGen UID:
995588
•Concept ID:
CN315932
•
Disease or Syndrome
Synonym: unbalanced Robertsonian translocation Down syndrome
 
Monarch Initiative: MONDO:0700094

Definition

Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred with loss of chromosomal material between the two nonhomologous 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

Recent clinical studies

Etiology

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
A rare non-Robertsonian translocation involving chromosomes 15 and 21.
Baruffi MR, Souza DH, Silva RA, Ramos ES, Moretti-Ferreira D
Sao Paulo Med J 2013;131(6):427-31. doi: 10.1590/1516-3180.2013.1316539. PMID: 24346783Free 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
Down syndrome - transferrin parallels plasma iron changes.
Kedziora J, Witas H, Bartosz G, Leyko W, Jeske J, Rozynkowa D
Experientia 1978 Jun 15;34(6):712-3. doi: 10.1007/BF01947275. PMID: 149016

Diagnosis

Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line.
Chen CP, Chen YY, Wu FT, Pan YT, Lee CC, Wang W
Taiwan J Obstet Gynecol 2024 Nov;63(6):931-934. doi: 10.1016/j.tjog.2024.09.014. PMID: 39482007
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
A rare non-Robertsonian translocation involving chromosomes 15 and 21.
Baruffi MR, Souza DH, Silva RA, Ramos ES, Moretti-Ferreira D
Sao Paulo Med J 2013;131(6):427-31. doi: 10.1590/1516-3180.2013.1316539. PMID: 24346783Free 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
Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, +21 and 47, +13.
Hook EB
Ann Hum Genet 1984 Oct;48(4):313-25. doi: 10.1111/j.1469-1809.1984.tb00845.x. PMID: 6238567

Prognosis

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
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

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
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
Parental origin determination in thirty de novo Robertsonian translocations.
Shaffer LG, Jackson-Cook CK, Stasiowski BA, Spence JE, Brown JA
Am J Med Genet 1992 Aug 1;43(6):957-63. doi: 10.1002/ajmg.1320430611. PMID: 1357969
Unbalanced Robertsonian translocations associated with Down's syndrome or Patau's syndrome: chromosome subtype, proportion inherited, mutation rates, and sex ratio.
Hook EB
Hum Genet 1981;59(3):235-9. doi: 10.1007/BF00283671. PMID: 6459988

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