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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

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
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 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

Recent clinical studies

Etiology

Are paternal or grandmaternal age associated with higher probability of trisomy 21 in offspring? A population-based, matched case-control study, 1995-2015.
Schliep KC, Feldkamp ML, Hanson HA, Hollingshaus M, Fraser A, Smith KR, Panushka KA, Varner MW
Paediatr Perinat Epidemiol 2021 May;35(3):281-291. Epub 2020 Dec 1 doi: 10.1111/ppe.12737. PMID: 33258505Free 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
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
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
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

Diagnosis

Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113
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
A parent's guide to the genetics of Down syndrome.
Hartway S
Adv Neonatal Care 2009 Feb;9(1):27-30. doi: 10.1097/01.ANC.0000346092.50981.c0. PMID: 19212162
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
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
Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial.
de la Torre R, de Sola S, Hernandez G, Farré M, Pujol J, Rodriguez J, Espadaler JM, Langohr K, Cuenca-Royo A, Principe A, Xicota L, Janel N, Catuara-Solarz S, Sanchez-Benavides G, Bléhaut H, Dueñas-Espín I, Del Hoyo L, Benejam B, Blanco-Hinojo L, Videla S, Fitó M, Delabar JM, Dierssen M; TESDAD study group
Lancet Neurol 2016 Jul;15(8):801-810. doi: 10.1016/S1474-4422(16)30034-5. PMID: 27302362
A comparative analysis of the effectiveness of cytogenetic and molecular genetic methods in the detection of Down syndrome.
Mačkić-Đurović M, Projić P, Ibrulj S, Cakar J, Marjanović D
Bosn J Basic Med Sci 2014 May;14(2):94-8. doi: 10.17305/bjbms.2014.2271. PMID: 24856381Free PMC Article
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
Fetal heart rate and nuchal translucency in detecting chromosomal abnormalities other than Down syndrome.
Martinez JM, Echevarría M, Borrell A, Puerto B, Ojuel J, Fortuny A
Obstet Gynecol 1998 Jul;92(1):68-71. doi: 10.1016/s0029-7844(98)00102-1. PMID: 9649096

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
Cytogenetic and epidemiological profiles of Down syndrome in a Moroccan population: a report of 852 cases.
Jaouad IC, Cherkaoui Deqaqi S, Sbiti A, Natiq A, Elkerch F, Sefiani A
Singapore Med J 2010 Feb;51(2):133-6. PMID: 20358152
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

Clinical prediction guides

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
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
Observed Rate of Down Syndrome in Twin Pregnancies.
Sparks TN, Norton ME, Flessel M, Goldman S, Currier RJ
Obstet Gynecol 2016 Nov;128(5):1127-1133. doi: 10.1097/AOG.0000000000001690. PMID: 27741202
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

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