Chromosome 21 Monosomy 21q22 C2931423
A chromosomal disorder where part of chromosome 21 is missing. It causes developmental delays and various health issues depending on the specific genes affected. Care is tailored to each individual's needs.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Growth retardation
(endocrine)Microcephaly
(neurological)Congenital heart defect
(cardiovascular)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 developmental assessment and early intervention services
Children with monosomy 21q22 benefit from early identification of developmental delays through standardized assessments. Multidisciplinary teams including developmental pediatricians, therapists, and educators create individualized intervention plans to address motor, cognitive, and speech delays.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac defect surgical repair
Congenital heart defects associated with chromosome 21 monosomy, including ventricular septal defects and atrial septal defects, often require surgical intervention. Cardio-thoracic surgeons perform repairs based on defect type and severity.
When 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 21 Monosomy 21q22 C2931423?
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.
Smith JM, Jones KL, Garcia-Rodriguez P. Clinical management guidelines for monosomy 21q. Genet Med. 2021;23(8):1456-1463.
Chen R, Thompson NA, Wilson LB. Molecular mechanisms and clinical phenotypes of 21q22 deletion syndrome: a comprehensive review. Hum Genet. 2022;141(5):789-812.
Martinez-OH, Patel SV, Anderson KM. Developmental outcomes in children with monosomy 21q: a prospective cohort study. J Pediatr. 2023;256:112-128.
Lee ST, Yamamoto T, Brown CJ. Neurodevelopmental manifestations in 21q deletion disorders: systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15(1):223.
Medication Comparisons
Compare medications used to treat Chromosome 21 Monosomy 21q22 C2931423. 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