Chromosome Xp11.23-p11.22 duplication syndrome

MONDO:0010428

A 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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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Partial duplication of the short arm of chromosome X (0)

Including sub-types (5) Tagged with Chromosome Xp11.23-p11.22 duplication syndrome (0)

Trials to join now! 2 Not yet finished but already full! 2 Completed 1

Scientists dig into the mysteries of x and y chromosomes

Knowledge-focused Completed

This study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:07 UTC

Chromosome Xp11.23-p11.22 duplication syndrome

Where it sits in the disease tree

Scientists dig into the mysteries of x and y chromosomes