U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mosaic translocation Down syndrome

MedGen UID:
989330
•Concept ID:
CN306874
•
Disease or Syndrome
Synonym: mosaic translocation Down syndrome
 
Monarch Initiative: MONDO:0700129

Definition

Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism. [from MONDO]

Professional guidelines

PubMed

Down syndrome in India--diagnosis, screening, and prenatal diagnosis.
Verma IC, Lall M, Dua Puri R
Clin Lab Med 2012 Jun;32(2):231-48. doi: 10.1016/j.cll.2012.04.010. PMID: 22727002
Prenatal diagnosis of chromosome abnormality.
Laurence KM, Gregory PJ
Pathobiol Annu 1978;8:155-87. PMID: 152897
Prenatal diagnosis of genetic abnormalities.
Frias JL
Clin Obstet Gynecol 1975 Dec;18(4):221-36. doi: 10.1097/00003081-197512000-00018. PMID: 129311

Recent clinical studies

Etiology

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
Elmerdahl Frederiksen L, Ølgaard SM, Roos L, Petersen OB, Rode L, Hartwig T, Ekelund CK; Danish Central Cytogenetics Registry Study Group, Vogel I
Acta Obstet Gynecol Scand 2024 Feb;103(2):351-359. Epub 2023 Nov 20 doi: 10.1111/aogs.14713. PMID: 37986093Free PMC Article
Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113
Translocation Down syndrome.
Jyothy A, Rao GN, Kumar KS, Rao VB, Uma Devi B, Reddy PP
Indian J Med Sci 2002 May;56(5):225-9. PMID: 12649945
Down syndrome and chromosome 21 abnormalities in leukaemia.
Sacchi N
Baillieres Clin Haematol 1992 Oct;5(4):815-31. doi: 10.1016/s0950-3536(11)80047-8. PMID: 1308166
Ocular findings in Down's syndrome.
Jaeger EA
Trans Am Ophthalmol Soc 1980;78:808-45. PMID: 6455003Free PMC Article

Diagnosis

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
Elmerdahl Frederiksen L, Ølgaard SM, Roos L, Petersen OB, Rode L, Hartwig T, Ekelund CK; Danish Central Cytogenetics Registry Study Group, Vogel I
Acta Obstet Gynecol Scand 2024 Feb;103(2):351-359. Epub 2023 Nov 20 doi: 10.1111/aogs.14713. PMID: 37986093Free PMC Article
Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113
Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down's syndrome patient: review of thirty-one similar dicentrics.
Rivera H, Vásquez-Velásquez AI
J Genet 2014 Apr;93(1):189-92. doi: 10.1007/s12041-014-0329-4. PMID: 24840838
Evaluation of first-trimester tricuspid regurgitation for Down syndrome screening.
McGee DC
J Perinat Neonatal Nurs 2008 Oct-Dec;22(4):282-90; quiz 292-3. doi: 10.1097/01.JPN.0000341358.53069.4a. PMID: 19011492
Translocation Down syndrome.
Jyothy A, Rao GN, Kumar KS, Rao VB, Uma Devi B, Reddy PP
Indian J Med Sci 2002 May;56(5):225-9. PMID: 12649945

Therapy

Seizures in Down Syndrome: An Update.
Rahman MM, Fatema K
Mymensingh Med J 2019 Jul;28(3):712-715. PMID: 31391451
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
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism.
Conn CM, Cozzi J, Harper JC, Winston RM, Delhanty JD
J Med Genet 1999 Jan;36(1):45-50. PMID: 9950365Free PMC Article
Prenatal genetic diagnosis in 3000 amniocenteses.
Golbus MS, Loughman WD, Epstein CJ, Halbasch G, Stephens JD, Hall BD
N Engl J Med 1979 Jan 25;300(4):157-63. doi: 10.1056/NEJM197901253000402. PMID: 153471
Prenatal diagnosis of genetic abnormalities.
Frias JL
Clin Obstet Gynecol 1975 Dec;18(4):221-36. doi: 10.1097/00003081-197512000-00018. PMID: 129311

Prognosis

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
Association of Parental Age and the Type of Down Syndrome on the Territory of Bosnia and Herzegovina.
Sotonica M, Mackic-Djurovic M, Hasic S, Kiseljakovic E, Jadric R, Ibrulj S
Med Arch 2016 Apr;70(2):88-91. Epub 2016 Apr 1 doi: 10.5455/medarh.2016.70.88-91. PMID: 27147778Free PMC Article
Assessment and care of the newborn with Down syndrome.
Ranweiler R
Adv Neonatal Care 2009 Feb;9(1):17-24; Quiz 25-6. doi: 10.1097/01.ANC.0000346090.05240.ab. PMID: 19212160
Dermatoglyphic peculiarities in Down's syndrome detection of mosaicism and balanced translocation carriers.
Rodewald A, Zang KD, Zankl H, Zankl M
Hum Genet Suppl 1981;2:41-56. doi: 10.1007/978-3-642-68006-9_4. PMID: 6218140
Ocular findings in Down's syndrome.
Jaeger EA
Trans Am Ophthalmol Soc 1980;78:808-45. PMID: 6455003Free PMC Article

Clinical prediction guides

Timeline to symptomatic Alzheimer's disease in people with Down syndrome as assessed by amyloid-PET and tau-PET: a longitudinal cohort study.
Schworer EK, Zammit MD, Wang J, Handen BL, Betthauser T, Laymon CM, Tudorascu DL, Cohen AD, Zaman SH, Ances BM, Mapstone M, Head E, Christian BT, Hartley SL; Alzheimer's Biomarker Consortium–Down Syndrome (ABC–DS)
Lancet Neurol 2024 Dec;23(12):1214-1224. doi: 10.1016/S1474-4422(24)00426-5. PMID: 39577922
Cytogenetic Patterns, Congenital Heart Disease, and Thyroid Dysfunction in Children with Down Syndrome.
John ST, Gayathri K, Sahasranam KV
J Pediatr 2022 Jun;245:196-200. Epub 2022 Jan 31 doi: 10.1016/j.jpeds.2022.01.034. PMID: 35114288
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
Acute lymphoblastic leukemia and chromosome 21.
Berger R
Cancer Genet Cytogenet 1997 Mar;94(1):8-12. doi: 10.1016/s0165-4608(96)00351-2. PMID: 9078285
Cytogenetic studies in Down syndrome.
Verma IC, Mathew S, Elango R, Shukla A
Indian Pediatr 1991 Sep;28(9):991-6. PMID: 1839389

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...