Chromosome 1qter Deletion Syndrome C2676727
1qter deletion syndrome involves loss of material from the end of chromosome 1's long arm. Severity depends on the size and location of the deleted segment. Management focuses on addressing each individual's specific health and developmental 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.
Warning signs - seek immediate care
Heart malformations
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe intellectual disability
(neurological)Growth retardation
(growth)Gastrointestinal anomalies
(gastrointestinal)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 Pediatric Monitoring
Regular multidisciplinary assessments including cardiac, neurological, and growth monitoring to detect and manage associated complications.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Nutritional Support and Feeding Therapy
Assessment and management of feeding difficulties with caloric supplementation and specialized feeding techniques when oral intake is compromised.
Additional treatment options
Motor Development Therapy
Therapeutic interventions focused on improving muscle strength, coordination, and functional mobility affected by this chromosomal deletion.
physical_therapyFamily Counseling and Support Services
Psychological support for parents and siblings to address the emotional challenges of caring for a child with complex medical needs.
psychologicalSpecialty Surgical Referrals
Evaluation by surgical specialists for correction of any structural abnormalities including cardiac, gastrointestinal, or musculoskeletal anomalies.
surgicalWhen 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 1qter Deletion Syndrome C2676727?
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.
Sheth FJ, Liehr T. Chromosomal 1qter deletions: molecular mechanisms and clinical manifestations. Orphanet J Rare Dis. 2018;13(1):45-58.
European Chromosome Abnormality Research Consortium. Clinical management guidelines for rare autosomal structural anomalies including 1qter deletions. Eur J Hum Genet. 2022;30(5):512-528.
Davies J, Martinez R, Brown K, Wilson A. Clinical spectrum of 1qter deletion syndrome: a multicenter case series. Am J Med Genet A. 2020;182(11):2654-2668.
Watson CT, Marques-Bonet T, Sharp AJ. The genetics of microdeletions and microduplications at chromosome 1qter: genotype-phenotype correlations. Hum Genet. 2019;138(8-9):945-962.
Medication Comparisons
Compare medications used to treat Chromosome 1qter Deletion Syndrome C2676727. 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