Chromosome Xp11.23-p11.22 duplication syndrome
MONDO:0010428A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
Also known as: Xp11.22-p11.23 Microduplication, chromosome Xp11.23-p11.22 duplication syndrome, chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant
5 clinical trials for this condition and its sub-types, 0 tagged with Chromosome Xp11.23-p11.22 duplication syndrome itself.
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New study aims to unlock mysteries of sex chromosome disorders in children
Knowledge-focused By invitation onlyThis study follows 300 fetuses and children with sex chromosome disorders to track their growth, organ development, and overall health. Researchers will also look at genetic and gut microbiome factors. The goal is to better understand how these conditions affect children over tim…
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Scientists probe genetic secrets of lost fetuses to unravel sex chromosome mysteries
Knowledge-focused By invitation onlyThis study looks at fetuses with sex chromosome disorders (like extra or missing X or Y chromosomes) that were either miscarried or electively aborted. Researchers will analyze the placenta and fetal tissues to see how the chromosome changes affect gene activity and development. …
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC