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Translocation Down syndrome

MedGen UID:: 693553
•Concept ID:: C1269751
•: Congenital Abnormality

Synonyms:	translocation Down syndrome; Translocation Down's syndrome
SNOMED CT:	Translocation Down syndrome (371045000); Translocation Down's syndrome (371045000)

Monarch Initiative:	MONDO:0700128

Definition

Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital chromosomal disease
- CROGVAutosomal anomaly
  - CROGVAutosomal monosomy
    - CROGVRing chromosome
- CROGVAutosomal chromosomal disorder
  - CROGVChromosome 13q trisomy
  - CROGVChromosome 3, trisomy 3p
  - CROGVChromosome 5, trisomy 5p
  - CROGVComplete trisomy 13 syndrome
  - CROGVComplete trisomy 20 syndrome
  - CROGVDown syndrome
    - CROGVTranslocation Down syndrome
    - CROGVTrisomy 21
  - CROGVTrisomy 8
  - CROGVTrisomy 18
- CROGVRing chromosome anomaly
- CROGVSex-linked hereditary disorder

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital chromosomal disease
      - Autosomal chromosomal disorder
        Down syndrome
        Translocation Down syndrome
        Mosaic translocation Down syndrome
        Reciprocal translocation down syndrome
        Robertsonian translocation Down syndrome
        Balanced Robertsonian translocation Down syndrome
        Unbalanced Robertsonian translocation Down syndrome

Professional guidelines

PubMed

Rapid diagnosis of maternal origin of de novo fetal Robertsonian translocation down syndrome of 46,XY,der(13;21)(q10;q10),+21 by quantitative fluorescent polymerase chain reaction in a pregnancy associated with increased nuchal translucency and an abnormal result of first-trimester maternal serum screening.

Chen CP
Taiwan J Obstet Gynecol 2024 Jan;63(1):120-121. doi: 10.1016/j.tjog.2023.10.013. PMID: 38216250

See all (1)

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: 31061830 Free PMC Article

Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment.

Bornstein E, Lenchner E, Donnenfeld A, Jodicke C, Keeler SM, Kapp S, Divon MY
Am J Obstet Gynecol 2010 Oct;203(4):391.e1-5. Epub 2010 Aug 5 doi: 10.1016/j.ajog.2010.06.019. PMID: 20691415

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

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

Translocation Down syndrome.

Jyothy A, Rao GN, Kumar KS, Rao VB, Devi BU, Reddy PP
Indian J Med Sci 2002 Mar;56(3):122-6. PMID: 12508621

See all (9)

Diagnosis

Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment.

Bornstein E, Lenchner E, Donnenfeld A, Jodicke C, Keeler SM, Kapp S, Divon MY
Am J Obstet Gynecol 2010 Oct;203(4):391.e1-5. Epub 2010 Aug 5 doi: 10.1016/j.ajog.2010.06.019. PMID: 20691415

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

Accuracy of the clinical diagnosis of Down syndrome.

Devlin L, Morrison PJ
Ulster Med J 2004 May;73(1):4-12. PMID: 15244118 Free PMC Article

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

Translocation Down syndrome.

Jyothy A, Rao GN, Kumar KS, Rao VB, Devi BU, Reddy PP
Indian J Med Sci 2002 Mar;56(3):122-6. PMID: 12508621

See all (6)

Therapy

Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment.

Bornstein E, Lenchner E, Donnenfeld A, Jodicke C, Keeler SM, Kapp S, Divon MY
Am J Obstet Gynecol 2010 Oct;203(4):391.e1-5. Epub 2010 Aug 5 doi: 10.1016/j.ajog.2010.06.019. PMID: 20691415

See all (1)

Prognosis

Down syndrome rates and relaxed selection at older maternal ages.

Hook EB
Am J Hum Genet 1983 Nov;35(6):1307-13. PMID: 6228139 Free PMC Article

See all (1)

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: 31061830 Free PMC Article

Accuracy of the clinical diagnosis of Down syndrome.

Devlin L, Morrison PJ
Ulster Med J 2004 May;73(1):4-12. PMID: 15244118 Free PMC Article

Down syndrome rates and relaxed selection at older maternal ages.

Hook EB
Am J Hum Genet 1983 Nov;35(6):1307-13. PMID: 6228139 Free PMC Article

See all (3)

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Translocation Down syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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