48,XYYY syndrome
MONDO:002046948,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.
Also known as: 48,XYYY
6 clinical trials for this condition and its sub-types, 0 tagged with 48,XYYY syndrome itself.
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A simple blood draw could one day detect down syndrome in pregnancy
Diagnosis Recruiting nowResearchers are collecting blood samples from pregnant women at higher risk of having a baby with a chromosomal condition. The goal is to develop a noninvasive prenatal test that looks at cell-free DNA in the mother's blood to detect Down syndrome. Participants give blood between…
Sponsor: Sequenom, Inc. • Aim: Diagnosis
Last updated Sep 11, 2026 00:00 UTC
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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