Distal Xq28 microduplication syndrome
MONDO:0017404Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.
Also known as: Xq28 Microduplication, distal dup(X)q(28), distal trisomy Xq28
5 clinical trials for this condition and its sub-types, 0 tagged with Distal Xq28 microduplication syndrome itself.
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New prenatal blood test aims to detect genetic disorders without invasive procedures
Diagnosis Recruiting nowThis study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…
Sponsor: BillionToOne Inc. • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC
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Social coaching may ease anxiety and autism traits in rare chromosome conditions
Symptom relief Recruiting nowThis trial tests whether a 10-session group program called Social Management Training can improve mental health, executive function, and social skills in adults aged 16 to 69 who have sex chromosome aneuploidies (extra or missing sex chromosomes). Participants complete questionna…
Phase 1 • Sponsor: University of Oslo • Aim: Symptom relief
Last updated Jul 24, 2026 00:00 UTC