12q14 Microdeletion Syndrome C4305140
A rare genetic deletion involving a segment of chromosome 12. It may lead to developmental delays, learning difficulties, and other health issues. Management is individualized and focuses on supportive therapies.
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
Seizures
Epileptic episodes that may vary in type and frequency.
Seek immediate medical attention if seizures occur or recur.
Congenital heart defects
Structural heart abnormalities present at birth, varying in severity.
Cardiac evaluation and echocardiogram recommended shortly after diagnosis.
Intrauterine growth restriction
(constitutional)Reduced fetal growth during pregnancy, resulting in lower birth weight and length than expected.
Frequency: 80-90% of patients
Postnatal growth retardation
(constitutional)Continued slow growth after birth, leading to short stature and failure to thrive.
Frequency: 80-90% of patients
Global developmental delay
(neurologic)Delays in reaching developmental milestones such as sitting, walking, and speaking.
Frequency: 70-80% of patients
Intellectual disability
(neurologic)Variable levels of cognitive impairment affecting learning and problem-solving abilities.
Frequency: 70-80% of patients
Feeding difficulties
(gastrointestinal)Problems with feeding including poor suck, difficulty swallowing, or food refusal.
Frequency: 50-60% of patients
Skeletal abnormalities
(musculoskeletal)Bone and joint issues including abnormal bone development or joint contractures.
Frequency: 40-50% of patients
Speech and language delay
(neurologic)Delayed speech development and difficulties with expressive language.
Frequency: 50-60% 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
Growth and endocrine monitoring
Regular assessment of growth parameters, thyroid function, and growth hormone levels as short stature and endocrine abnormalities are common in 12q14 microdeletion syndrome.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Nutritional optimization
Personalized nutrition planning addressing feeding difficulties and ensuring adequate caloric and nutrient intake for optimal growth and development.
Additional treatment options
Gross motor skill development program
Therapeutic interventions focused on improving balance, coordination, and strength to address motor delays commonly associated with this microdeletion.
physical_therapyEducational support services
Implementation of individualized education plan (IEP) accommodations including modified curriculum, extended time, and specialized instruction strategies.
psychologicalCardiac evaluation
Echocardiogram and cardiology consultation to screen for congenital heart defects that may be associated with 12q14 microdeletion syndrome.
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 12q14 Microdeletion Syndrome C4305140?
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.
Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Ballegeer E, Speleman F, Poppe B, De Paepe A. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients. J Med Genet. 2006 Jul;43(7):e38.
Mendoza-Londono R, Martinez-Troche D, Duker AL, Tilstra D, Li M, Hakonarson H, Chiavacci R, Aleck K, Simpson M, McGhee J, Pivnick EK, Brownstein CA, McCasland C, Keller-Ramey M, McDonald MT, Bloch-Zupan A, Stumpf C, Tamhankar PM, Bedell J, Kline AD, Gripp KW. Constitutional chromosome anomalies: patterns and outcome in the era of microarray. Am J Med Genet A. 2015 Jan;167A(1):133-41.
Buysse K, Menten B, Oostra A, Mortier G, Speleman F. Delineation of the 12q14 microdeletion syndrome: description of a third family and review of the literature. Eur J Med Genet. 2008 Sep-Oct;51(5):466-75.
Bartsch O, Meschede D, Emser A, Tönnies H, Ragg S, Flöttmann R, Majewski F, Sperling K. Three patients with 12q14 microdeletions and the phenotype of short stature, microcephaly, intellectual disability and low body mass index. Clin Dysmorphol. 2006 Oct;15(4):207-14.
Kant SG, van Haeringen A, Bakker E, Van der Burgt I, Hansson KB, van der Knaap MS, Bakker J, Van Spaendonck-Zwarts KY, Govaerts LC. A case of 12q14 microdeletion syndrome: patient with mild growth retardation and low BMI. Clin Dysmorphol. 2012 Oct;21(4):217-20.
McDonald-McGinn DM, Zackai EH, Kainu T, Hanauer D, Graham JM Jr. Chromosome 12q14 deletion syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington; 1993-2024.
Leach NT, Chudley AE, Nowaczyk MJ, Robinson A, Masliah-Plachon J, Langlois S, Zackai EH, McDonald-McGinn DM, Emanuel BS, Shaikh TH. 12q14 microdeletions: another case of a rare chromosomal abnormality with variable phenotype. Am J Med Genet A. 2009 Apr;149A(4):779-84.
Pivnick EK, Velinov M, Dobyns WB, Dasouki M, Feldman G, Mercer C, Solish M, Hoo JJ. 12q14 microdeletion syndrome: a family with short stature and proportionate short stature. Am J Med Genet A. 2016 Apr;170A(4):1041-7.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy