Robertsonian translocation Down syndrome

MONDO:0700082

Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.

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

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Sub-types

Balanced Robertsonian translocation Down syndrome (0) Unbalanced Robertsonian translocation Down syndrome (0)

Broader categories

Disease (618) Down syndrome (113) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Translocation Down syndrome (2) Autosomal anomaly (0) Chromosome 21 disorder (0) Disease by etiologic mechanism (0)

Not yet finished but already full! 1 Completed 1

10,000 genomes scoured for clues to rare brain diseases

Knowledge-focused ENROLLING_BY_INVITATION

This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.

Sponsor: Karolinska Institutet • Aim: Knowledge-focused

Last updated Jun 26, 2026 13:56 UTC

Robertsonian translocation Down syndrome

Sub-types

Broader categories

10,000 genomes scoured for clues to rare brain diseases