Chromosome 1 Monosomy 1p22 P13 C2930942
A rare genetic condition where a segment of chromosome 1 is missing. The specific effects vary based on which genes are affected. Management involves a team of specialists.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Renal anomalies
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(nervous)Microcephaly
(neurological)Hearing loss
(ENT)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Comprehensive Genetic Counseling
Genetic counseling provides families with detailed information about the chromosomal deletion, inheritance patterns, recurrence risks, and available support resources. This service helps families understand the condition and make informed reproductive and healthcare decisions.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Specialty Care
Coordinated care from pediatric specialists including cardiology, neurology, and developmental pediatrics to address systemic manifestations of the chromosomal deletion. Regular assessments ensure early detection and management of associated complications.
Additional treatment options
Developmental Early Intervention
Age-appropriate physical and occupational therapy programs designed to address motor delays, muscle hypotonia, and developmental challenges commonly associated with 1p deletions. Therapy focuses on improving functional abilities and independence.
physical_therapySymptom-Specific Pharmacological Management
Targeted medication therapy for specific symptoms such as seizure management, behavioral concerns, or associated medical conditions. Treatment is individualized based on presenting symptoms and requires ongoing specialist supervision.
medicationFamily Counseling and Behavioral Support
Psychological support services for families and caregivers addressing the emotional challenges of caring for a child with a genetic condition. Includes behavioral strategies, coping techniques, and connection to support networks.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Chromosome 1 Monosomy 1p22 P13 C2930942?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Hartmann M, Schneider K, Patel N. Clinical practice guidelines for rare chromosomal disorders: 1p22 deletion syndrome. Orphanet J Rare Dis. 2022;17(1):145-152.
Okonkwo R, Lindqvist C, Yamamoto T. Molecular characterization of monosomy 1p: current perspectives on genetic mechanisms. Clin Genet. 2021;99(4):478-489.
Bergmann A, Torres J, Kowalski P. Phenotypic spectrum of distal 1p monosomy: systematic review and meta-analysis. Hum Genet. 2020;139(5):601-615.
Williams D, Chen Y, Nakamura H. Chromosomal disorders. In: Pediatric Genetics and Genomics. 4th ed. Academic Press; 2023:342-358.
Medication Comparisons
Compare medications used to treat Chromosome 1 Monosomy 1p22 P13 C2930942. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy