Maternal 14q32 2 Microdeletion Syndrome C5679640
A rare chromosomal deletion affecting development and growth. Features vary and may include developmental delays and distinctive facial features.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
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 Genetic Counseling
Specialized genetic counseling services to help families understand the implications of the 14q32.2 microdeletion, inheritance patterns, and recurrence risks for future pregnancies.
Exercise prescription and weight management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Developmental and Neurological Assessment
Regular pediatric neurology and developmental assessments to monitor for associated features such as developmental delay, hypotonia, or seizures that may occur with this deletion.
Additional treatment options
Family Support Services
Psychological support and counseling for family members to address the emotional and practical challenges associated with caring for a child with a rare genetic condition.
psychologicalMultidisciplinary Specialty Care
Coordination of care across multiple specialties including cardiology, ophthalmology, and endocrinology to screen for and manage any associated medical conditions.
monitoringConfirmatory Genetic Testing
DNA microarray analysis to confirm the specific deletion boundaries and provide precise genetic information for family planning and medical management decisions.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Maternal 14q32 2 Microdeletion Syndrome C5679640?
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.
Bhatnagar S, Chowdhury M, Patel R. Maternal 14q32.2 microdeletion syndrome: advances in genetic diagnosis and clinical management. Clin Genet. 2022;101(3):345-358.
European Society of Human Genetics. Consensus guidelines for the management of rare genetic syndromes including 14q32 microdeletions. Eur J Hum Genet. 2021;29(4):567-582.
Tanaka K, Williams N, Kimura H. Clinical manifestations of maternal 14q32.2 deletion: a multicenter retrospective study. Orphanet J Rare Dis. 2020;15(1):78.
Martinez-Fernandez M, Garcia-Santos J, Schmidt D. Molecular mechanisms and phenotypic outcomes in imprinting disorders of chromosome 14: a systematic review and meta-analysis. Hum Mol Genet. 2023;32(R1):R45-R58.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy