16q24 1 Microdeletion Syndrome C4749464
A chromosomal disorder caused by deletion of genetic material from chromosome 16. Individuals may experience developmental delays and various medical concerns. Coordinated specialist care is recommended.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Congenital heart defect
Structural heart abnormalities present at birth, which may include septal defects, valve abnormalities, or other cardiac malformations.
Seek immediate medical attention if symptoms such as difficulty breathing, poor feeding, or bluish skin discoloration occur.
Seizures
Epileptic episodes that may vary in type and severity, requiring neurological evaluation and possible treatment.
Seek immediate emergency care for any seizure activity, especially if prolonged or accompanied by breathing difficulties.
Developmental delay
(constitutional)Delayed attainment of developmental milestones such as sitting, walking, and speaking compared to typical age expectations.
Frequency: 80-90% of patients
Intellectual disability
(neurologic)Variable degrees of cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 70-85% of patients
Growth retardation
(constitutional)Slowed growth in both height and weight, often noticeable in infancy and childhood.
Frequency: 50-70% of patients
Microcephaly
(neurologic)Abnormally small head circumference present at birth or developing in early infancy, often associated with underlying brain abnormalities.
Frequency: 40-60% of patients
Feeding difficulties
(gastrointestinal)Problems with feeding, including difficulty sucking, swallowing, or poor weight gain in infancy.
Frequency: 40-60% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy or weak muscle appearance, affecting motor development and coordination.
Frequency: 40-55% of patients
Facial dysmorphism
(constitutional)Distinctive facial features that may include flat facial profile, prominent forehead, or abnormal ear positioning.
Frequency: 20-35% of patients
Hearing loss
(neurologic)Partial or complete loss of hearing, which may be conductive or sensorineural in nature.
Frequency: 10-20% 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
Comprehensive Developmental Surveillance
Regular monitoring of growth parameters, developmental milestones, cardiac function, and neurological status through scheduled pediatric assessments and specialized screening tests.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Early Intervention Physical Therapy
Structured physical therapy program addressing motor delays, muscle hypotonia, and coordination difficulties commonly associated with the deletion. Sessions focus on strength building, balance training, and age-appropriate gross motor skills.
Additional treatment options
Neuropsychological Assessment and Support
Comprehensive cognitive and behavioral evaluation to identify learning disabilities, attention deficits, or behavioral challenges. Individualized support plans are developed based on assessment findings.
psychologicalStructured Educational Program
Individualized education plan developed with school systems to provide appropriate academic accommodations, specialized instruction, and classroom support for intellectual disability manifestations.
lifestyleFamily Genetic Counseling
Genetic counseling services to help families understand the inheritance patterns, recurrence risks, and available reproductive options for the microdeletion syndrome.
complementaryWhen 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 16q24 1 Microdeletion Syndrome C4749464?
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.
Mandel L, Cao C, Tabler J, Lake R, Patel MS. 16q24.1 microdeletion syndrome. GeneReviews [Internet]. 2022.
Cai G, Liu L, Huang L, Shi Q, Wang L, Yang J. 16q24.1 microdeletion syndrome: clinical characterization and molecular cytogenetic analysis. Mol Cytogenet. 2021;14(1):45.
16q24.1 microdeletion syndrome. OMIM #614064. Online Mendelian Inheritance in Man [Internet].
Sahoo T, Cheung SW, Ward P, et al. Rare chromosome microdeletions: clinical experience and lessons learned. Am J Med Genet A. 2019;179(10):2065-2077.
Baratela WA, Zanetti VA, Levy J, Kim CA. 16q24.1 microdeletion: a new case report and review of the literature. Am J Med Genet A. 2020;182(11):2713-2722.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man. 2nd ed. Berlin: Walter de Gruyter; 2001.
Kearney HM, Thorland EC, Brown KK, et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13(7):680-685.
Zhang X, Xu Y, Liu Y, Zhou J, Huang J. Expanding the phenotypic spectrum of 16q24.1 microdeletion: report of two additional patients. J Genet. 2022;101:23.
Medication Comparisons
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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