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Translocation Down syndrome

MONDO:0700128

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

Also known as: Robertsonian Translocation Trisomy 21

2 clinical trials for this condition and its sub-types.

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Sub-types

Balanced Robertsonian translocation Down syndrome (0) Mosaic translocation Down syndrome (0) Reciprocal translocation down syndrome (0) Robertsonian translocation Down syndrome (0) Unbalanced Robertsonian translocation Down syndrome (0)

Broader categories

Disease (680) Down syndrome (124) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 21 disorder (0) Disease by etiologic mechanism (0)

Not yet recruiting 1 Completed 1

Simple blood test could replace risky prenatal procedures for down syndrome

Diagnosis Completed

This study tested a new blood test that looks at fetal DNA in the mother's blood to detect Down syndrome (trisomy 21) as early as the first trimester. Researchers enrolled 976 pregnant women at high risk and compared the blood test results to standard invasive methods. The goal w…

Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis

Last updated Jun 27, 2026 08:11 UTC