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Reciprocal translocation down syndrome

MONDO:0700083

Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.

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

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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

Reciprocal translocation down syndrome

Broader categories

10,000 genomes scoured for clues to rare brain diseases