Short answer · Medically reviewed summary · Last updated: 2026-05-08
1p36 Deletion Syndrome is primarily known by its cytogenetic location, though it is historically referred to as Monosomy 1p36. It is a chromosomal disorder caused by the loss of a specific segment of genetic material on the short arm of chromosome 1, and it is officially categorized under various international medical classification systems. What are the common names and synonyms for 1p36 Deletion Syndrome? While 1p36 Deletion Syndrome is the current standard nomenclature, you may encounter several synonyms in medical records or older literature.
1p36 Deletion Syndrome synonyms
Other names for 1p36 Deletion Syndrome: synonyms, acronyms and related terms used by doctors and patients.
1p36 Deletion Syndrome is primarily known by its cytogenetic location, though it is historically referred to as Monosomy 1p36. It is a chromosomal disorder caused by the loss of a specific segment of genetic material on the short arm of chromosome 1, and it is officially categorized under various international medical classification systems.
What are the common names and synonyms for 1p36 Deletion Syndrome?
While 1p36 Deletion Syndrome is the current standard nomenclature, you may encounter several synonyms in medical records or older literature. The most frequent alternative is Monosomy 1p36. Because the condition is defined by the specific location of the genetic loss, it is occasionally described in clinical papers as a terminal deletion of the short arm of chromosome 1. These names all refer to the same underlying genetic mechanism involving the deletion of the distal region of the 1p36 band.
Why does 1p36 Deletion Syndrome have multiple names?
The naming convention for 1p36 Deletion Syndrome has evolved alongside advancements in cytogenetic technology. Early literature often described the condition based on the physical presentation of patients before the specific chromosomal cause was identified. As high-resolution testing like microarray analysis became standard, the field moved toward standardized cytogenetic nomenclature (ISCN) to ensure precision. The shift from descriptive names to location-based names like 1p36 Deletion Syndrome helps clinicians maintain consistency across global health databases.
How is the condition classified in medical databases?
Medical professionals and researchers use specific codes to track 1p36 Deletion Syndrome in clinical practice and research:
- OMIM (Online Mendelian Inheritance in Man): #607872
- Orphanet: ORPHA73278
- ICD-10-CM: Q93.5 (Other deletions of part of a chromosome)
Which name should be used when searching for information?
When searching for the most current clinical literature or support resources, 1p36 Deletion Syndrome remains the preferred term. Using this specific term ensures that you access the most relevant research, including the experiences of the 22 community members currently sharing their journeys on DiseaseMaps.org.
Next steps
- Consult with a clinical geneticist to confirm your specific chromosomal findings.
- Use the term "1p36 Deletion Syndrome" when searching databases like PubMed or NIH GARD for the latest research.
- Join the 1p36 Deletion Syndrome community on DiseaseMaps.org to connect with others who understand the clinical nuances of this diagnosis.
Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): 1p36 deletion syndrome
- Orphanet: Monosomy 1p36
- OMIM: Chromosome 1p36 deletion syndrome (#607872)
- 1p36 Deletion Support & Awareness (1p36DSA)
