Trisomy 22
MONDO:0022759Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).
Also known as: chromosome 22 trisomy
2 clinical trials for this condition and its sub-types, 0 tagged with Trisomy 22 itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Trisomy 22
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Mosaic trisomy 22 0 trials
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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