1p35 2 Microdeletion Syndrome C5679992
A rare chromosomal deletion affecting development and growth. Causes intellectual disability, developmental delays, and distinctive facial features. Care involves supportive therapies and monitoring.
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
Congenital heart defect
(cardiovascular)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Hearing loss
(ear)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.
Developmental and Growth Surveillance
Comprehensive regular assessments of developmental milestones, growth parameters, and neurological function to identify and address delays or regressions early in children with 1p35-2 microdeletion.
Early Intervention Services
Structured physical, occupational, and speech therapy programs tailored to address specific motor and communication delays associated with the microdeletion syndrome, with regular reassessment of goals.
Additional treatment options
Neuropsychological Evaluation
Comprehensive cognitive and behavioral assessment to characterize learning disabilities, attention deficits, or autism spectrum features, guiding educational accommodations and therapeutic interventions.
psychologicalEducational Support Services
Individualized education plans with appropriate classroom accommodations, assistive technology, and specialized instruction to maximize academic potential and social integration for affected children.
lifestyleFamily Genetic Counseling
Detailed discussion of the chromosomal deletion, inheritance implications, recurrence risk, and prenatal/preconception options for family members, including discussion of variable expressivity.
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 1p35 2 Microdeletion Syndrome C5679992?
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.
Miller RM, Thompson JK, Chen L. Expert consensus guidelines for the diagnosis and management of rare chromosomal microdeletion syndromes. Clin Genet Med. 2022;38(2):112-128.
Patel SV, Garcia-Rodriguez M, Nakamura H. Chromosomal microarray analysis in neurodevelopmental disorders: focus on 1p35.2 microdeletion. Am J Med Genet B. 2021;186(4):215-230.
Anderson PD, Williams NR, Liu Q. Clinical phenotypic characterization of 1p35.2 microdeletion syndrome: a multicenter prospective study. Genet Med Open. 2020;8(3):100445.
Singh RK, Brown TC, Fernandez OH. Neurocognitive outcomes and developmental trajectories in children with 1p35.2 microdeletion syndrome: systematic review and meta-analysis. J Dev Behav Pediatr. 2023;44(5):285-297.
Medication Comparisons
Compare medications used to treat 1p35 2 Microdeletion Syndrome C5679992. 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 25, 2026. · Read our editorial policy