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Monosomy

MONDO:0020639

A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.

1 clinical trial for this condition and its sub-types.

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Sub-types

Chromosome 18 mosaic monosomy (0) Chromosome 22, monosome mosaic (0) Monosomy 22 (0) Monosomy chromosome 8 (0) Monosomy X (0) Mosaic monosomy X (0)

Broader categories

Disease (680) Human disease (14) Aneuploidy (13) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (0)

Trials to join now! 1

New prenatal blood test aims to detect genetic disorders without invasive procedures

Diagnosis Recruiting now

This 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