Living with 11q partial monosomy syndrome
A genetic condition, also called Jacobsen syndrome, that affects development, behavior, facial features, and blood clotting.
Understanding 11q partial monosomy syndrome
Most people have delayed skills such as speech and motor skills, plus learning difficulties. Behavior concerns can include a short attention span, and many people have been diagnosed with ADHD. Autism spectrum disorder is more likely. More than 90 percent have a platelet disorder called Paris-Trousseau syndrome, which brings easy bruising and bleeding. GARD lists onset as during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Feeding difficulties in infancy
- Attention deficit (ADHD)
- Crossed eyes (strabismus)
- Drooping upper eyelid (ptosis)
- Constipation
- Facial asymmetry
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, blood and bone marrow specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with 11q Research & Resource Group and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. The summary explains it is a loss (deletion) of genetic material from chromosome 11.
Also known as: 11q terminal deletion disorder; 11q terminal deletion syndrome; chromosome 11q deletion syndrome; del(11)(q23.3); del(11)(qter); distal deletion 11q
Patient organizations
- 11q Research & Resource Group11q partial monosomy syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with 11q partial monosomy syndrome.
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