22q Partial Monosomy C0265489
A genetic disorder from missing material on chromosome 22, often called DiGeorge syndrome. It can affect the heart, immune system, and development. Requires lifelong specialized medical care.
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
Congenital heart defects
Structural abnormalities of the heart present at birth, commonly including tetralogy of Fallot, ventricular septal defects, and truncus arteriosus.
Seek immediate medical attention if symptoms of heart failure develop, including rapid breathing, difficulty feeding, or bluish skin coloration.
Hypocalcemia
Low blood calcium levels due to underdeveloped parathyroid glands, causing muscle cramps, tingling, and seizures.
Seek emergency care if experiencing severe muscle cramps, tetany, confusion, or seizures.
Seizures
Epileptic episodes that may be related to hypocalcemia, structural brain abnormalities, or idiopathic causes.
Seek emergency care for any new-onset seizure activity.
Cleft palate
(gastrointestinal)Opening or split in the roof of the mouth that may involve the soft palate and sometimes the hard palate.
Frequency: 30-50% of patients
Facial dysmorphism
(constitutional)Distinctive facial features including wide-set eyes, small ears, flattened midface, and thin lips.
Frequency: 80-90% of patients
Developmental delay
(neurologic)Delayed achievement of developmental milestones including motor skills, speech, and cognitive development.
Frequency: 70-90% of patients
Feeding difficulties
(gastrointestinal)Problems with feeding and swallowing due to cleft palate, low muscle tone, or sensory issues.
Frequency: 40-50% of patients
Immunodeficiency
(constitutional)Reduced immune function due to T-cell deficiency, leading to increased susceptibility to infections.
Frequency: 75-80% of patients
Renal anomalies
(gastrointestinal)Kidney abnormalities including absent, horseshoe, or dysplastic kidneys, often detected on prenatal ultrasound.
Frequency: 30-40% of patients
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
Immunological function monitoring
Regular assessment of T-cell function and immunoglobulin levels due to thymic hypoplasia associated with 22q partial monosomy. Frequency based on baseline immune function and clinical status.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac defect surgical repair
Surgical intervention for conotruncal heart defects and vascular anomalies characteristic of partial 22q monosomy. Procedures range from catheter-based interventions to open heart surgery depending on defect complexity.
Additional treatment options
Calcium and mineral supplementation monitoring
Assessment and management of hypocalcemia through dietary evaluation and supplementation when indicated. Regular calcium and vitamin D level monitoring guides supplementation needs.
dietaryDevelopmental and occupational therapy
Comprehensive therapy addressing developmental delays, feeding difficulties, and fine/gross motor skill development. Early intervention is particularly important for speech and language development.
physical_therapyPsychiatric and behavioral intervention
Assessment and treatment of psychiatric manifestations including anxiety, depression, and schizophrenia-spectrum disorders. Medication management combined with psychotherapy provides comprehensive care.
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 22q Partial Monosomy C0265489?
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.
American Academy of Pediatrics. Health Care Supervision for Children with 22q11.2 Deletion Syndrome. Pediatrics. 2012;129(5):e1526-e1536.
McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 Deletion Syndrome. Nat Rev Dis Primers. 2021;7(1):64.
Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. J Pediatr. 2011;159(2):332-339.e1.
Philip N, Bassett AS. Cognitive, Behavioral, and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome. Curr Opin Psychiatry. 2011;24(3):239-246.
Wenger TL, Miller JS, DePolo LM, et al. 22q11.2 Deletion Syndrome and Autism Spectrum Disorder: A Meta-analysis. Mol Autism. 2020;11(1):66.
Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. 22q11.2 Deletion Syndrome. Seattle (WA): University of Washington; 1993-2024.
Fung WLA, Butcher NJ, Costain G, et al. Breastfeeding Outcomes Among Women with 22q11.2 Deletion Syndrome. J Pediatr. 2016;178:206-210.
International Society of Psychiatric Genetics. Position Statement on 22q11.2 Deletion Syndrome and Psychiatric Disorders. 2019.
Cancrini C, Puttur F, Ma CS, et al. Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency: 22q11.2 Deletion Syndrome. J Allergy Clin Immunol. 2021;147(5):1699-1707.
European Society of Human Genetics. Clinical Utility of Genetic Testing in 22q11.2 Deletion Syndrome. Eur J Hum Genet. 2023;31(5):529-537.
Medication Comparisons
Compare medications used to treat 22q Partial Monosomy C0265489. 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