Xq27.3q28 duplication syndrome
MONDO:0010467Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
Also known as: Xq27.3-q28 microduplication syndrome, chromosome xq27.3-q28 duplication syndrome, X-linked recessive, dup(X)(q27.3q28), trisomy Xq27.3-q28, trisomy Xq27.3q28, chromosome Xq27.3-q28 DUPLICATION syndrome
5 clinical trials for this condition and its sub-types, 0 tagged with Xq27.3q28 duplication syndrome itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
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
-
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