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Balanced Robertsonian translocation Down syndrome

MedGen UID:
994320
•Concept ID:
CN315931
•
Disease or Syndrome
Synonym: balanced Robertsonian translocation Down syndrome
 
Monarch Initiative: MONDO:0700093

Definition

Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred without 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
Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH).
Witters I, Devriendt K, Legius E, Matthijs G, Van Schoubroeck D, Van Assche FA, Fryns JP
Prenat Diagn 2002 Jan;22(1):29-33. doi: 10.1002/pd.225. PMID: 11810646

Recent clinical studies

Etiology

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect.
De Falco A, Gambale A, Pinelli M, Suero T, De Falco L, Iolascon A, Martone S
Cells 2024 Jun 21;13(13) doi: 10.3390/cells13131078. PMID: 38994932Free 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
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
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

Diagnosis

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
A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.
Hochstenbach R, van Binsbergen E, Schuring-Blom H, Buijs A, Ploos van Amstel HK
Eur J Med Genet 2019 Sep;62(9):103543. Epub 2018 Sep 22 doi: 10.1016/j.ejmg.2018.09.010. PMID: 30248410
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
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

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
A low rate of trisomy 21 in twin-pregnancies: a cytogenetics retrospective study of 278 cases.
Jamar M, Lemarchal C, Lemaire V, Koulischer L, Bours V
Genet Couns 2003;14(4):395-400. PMID: 14738112

Clinical prediction guides

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect.
De Falco A, Gambale A, Pinelli M, Suero T, De Falco L, Iolascon A, Martone S
Cells 2024 Jun 21;13(13) doi: 10.3390/cells13131078. PMID: 38994932Free 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
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
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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