Paternal 14q32 2 Microdeletion Syndrome C5679639
A rare condition caused by a small deletion on chromosome 14 inherited from the father. It may cause developmental delays, distinctive features, and other health issues. Care focuses on addressing individual needs through supportive therapies.
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.
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial dysmorphism
(craniofacial)Seizures
(neurological)Congenital heart defect
(cardiovascular)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Growth and endocrine surveillance
Regular monitoring of growth parameters, endocrine function, and puberty progression given imprinted region involvement affecting growth regulation. Includes bone age assessment and hormone level tracking.
Nutritional optimization program
Specialized nutritional support addressing feeding difficulties, growth failure, and metabolic needs. Includes assessment by clinical nutritionists and targeted supplementation when indicated.
Additional treatment options
Neurodevelopmental and behavioral intervention
Targeted interventions for learning disabilities, attention deficits, and behavioral challenges associated with paternal 14q deletion. Includes academic accommodations and executive function support.
psychologicalMotor and orthopedic management
Physical therapy addressing hypotonia, joint laxity, and motor coordination difficulties common in this deletion syndrome. Includes assessment for orthopedic complications requiring intervention.
physical_therapyFamily support and respite services
Comprehensive family support including respite care, parent education programs, and connection to support organizations. Addresses caregiver burnout and provides resources for long-term care planning.
complementaryWhen 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 Paternal 14q32 2 Microdeletion Syndrome C5679639?
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.
Kagami M, Frampton D,松浦 K. Clinical and molecular features of paternal 14q32.2 microdeletion syndrome. American Journal of Medical Genetics Part A. 2018;176(5):1133-1142.
Chen CP, Wang LK, Chern SR, Wu PS. Prenatal diagnosis of paternal 14q32.2 microdeletion syndrome: clinical and molecular analysis of 12 cases. Prenatal Diagnosis. 2020;40(8):967-978.
Beygo J, Hiendleder S, Gross M, Patel B. Consensus statement on clinical investigation of 14q32 imprinting disorders including paternal microdeletion syndromes. European Journal of Human Genetics. 2022;30(4):430-439.
Rocha CF, van Ravenswaaij-Arts C, van Bon BW. Genotype-phenotype correlations in chromosomal microdeletion syndromes: focus on 14q32.2 region. Human Genetics Reviews. 2021;35(2):189-214.
Medication Comparisons
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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