Xq12-q13.3 duplication syndrome
MONDO:0017794Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
Also known as: dup(X)(q12-q13.3)
5 clinical trials for this condition and its sub-types, 0 tagged with Xq12-q13.3 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