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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

4 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 (618) Down syndrome (113) 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 Not yet finished but already full! 1 Completed 2
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  • New study to uncover hidden genetic carriers of down syndrome in families

    Knowledge-focused Not yet recruiting

    This study will look at 230 children with Down syndrome and their parents to find out how many have a rare form called translocation Down syndrome. Researchers will use blood tests to check if parents carry a balanced translocation that can be passed down. The goal is to better u…

    Sponsor: Assiut University • Aim: Knowledge-focused

    Last updated Jun 26, 2026 18:22 UTC

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