Monosomy 18p: A Chromosomal Disorder
Author Information
Author(s): Catherine Turleau
Primary Institution: Cytogénétique AP-HP et Inserm U781, Université Paris Descartes, Hôpital Necker-Enfants Malades
Conclusion
Monosomy 18p is a chromosomal disorder characterized by a deletion on chromosome 18, leading to various clinical features, with a generally moderate prognosis for those without severe malformations.
Supporting Evidence
- The incidence of Monosomy 18p is estimated to be about 1 in 50,000 live-born infants.
- About 10-15% of patients with Monosomy 18p present with severe brain and facial malformations.
- Cytogenetic analysis is essential for a definitive diagnosis of Monosomy 18p.
Takeaway
Monosomy 18p is when part of chromosome 18 is missing, which can cause some kids to be shorter and have trouble learning, but many can still live normal lives.
Methodology
Cytogenetic analysis is necessary for diagnosis, often performed through karyotype analysis from blood or prenatal testing.
Limitations
The study is limited by the small number of reported cases and the variability in clinical presentation.
Participant Demographics
The disorder has a female to male ratio of 3:2.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website