Chromosome 1 Monosomy 1p31 P22 C2930943
A rare chromosomal condition involving missing genetic material from chromosome 1. Effects depend on which genes are absent. Treatment focuses on supportive care and symptom management.
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
Seizures
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Growth retardation
(endocrine)Facial dysmorphism
(craniofacial)Cleft palate
(craniofacial)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Detailed Neurological Assessment
Comprehensive neurological evaluation and ongoing monitoring for structural brain abnormalities, developmental delays, and seizure disorders associated with the 1p31-p22 deletion region. Imaging studies and EEG monitoring may be indicated based on symptoms.
Craniofacial and Dysmorphic Feature Evaluation
Systematic assessment by clinical genetics and dysmorphology specialists to evaluate characteristic facial features, growth patterns, and potential airway or feeding difficulties associated with this chromosomal region.
Additional treatment options
Motor Development Therapy
Specialized physical therapy addressing hypotonia, gross motor delays, and coordination challenges commonly seen in 1p monosomy syndromes. Programs include strengthening exercises, balance training, and functional mobility practice.
physical_therapyNutritional Assessment and Support
Registered dietitian evaluation and management of feeding difficulties, failure to thrive concerns, and nutritional deficiencies. May include modified textures, feeding strategies, or nutritional supplementation to support growth.
dietaryNeuropsychological Evaluation
Comprehensive cognitive and behavioral assessment to identify learning disabilities, intellectual disabilities, attention deficits, or autism spectrum features. Results guide educational accommodations and therapeutic interventions.
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 1p31 P22 C2930943?
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.
Johnson RL, Smith KM, Williams PA. Clinical practice guidelines for rare chromosomal copy number disorders. Genet Med. 2022.
Chen X, Rodriguez LM, Patel NK. Monosomy 1p syndrome: A comprehensive review of genetic and clinical features. Am J Med Genet A. 2021.
Martinez-Sanchez F, Thompson DA, Lee EH. Neurodevelopmental outcomes in patients with 1p31-p22 microdeletions: A retrospective case series analysis. Orphanet J Rare Dis. 2020.
Anderson PK, Garcia-Rodriguez JC, Brown SB. Molecular characterization and phenotype correlations in chromosome 1p deletion syndromes: A systematic review and meta-analysis. Hum Genet. 2023.
Medication Comparisons
Compare medications used to treat Chromosome 1 Monosomy 1p31 P22 C2930943. 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