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Disease Profile
3q29 microdeletion syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q93.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
3qter deletion; Del(3)(q29); Monosomy 3qter;
Categories
Congenital and Genetic Diseases
Summary
3q29
3q29 microdeletion syndrome is caused by the loss of a small piece of
Diagnosis of 3q29 microdeletion syndrome may be suspected by symptoms but is confirmed by
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
30%-79% of people have these symptoms | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Macrotia |
Large ears
|
0000400 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Short philtrum | 0000322 | |
5%-29% of people have these symptoms | ||
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
0000717 | ||
Bipolar affective disorder |
Bipolar disorder
|
0007302 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
Depressivity |
Depression
|
0000716 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Hypospadias | 0000047 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Nasal speech |
Nasal voice
|
0001611 |
Oral cleft |
Cleft of the mouth
|
0000202 |
Patent ductus arteriosus | 0001643 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pectus excavatum |
Funnel chest
|
0000767 |
Psychosis | 0000709 | |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Six lumbar vertebrae | 0008416 | |
Subvalvular aortic stenosis |
Narrowing of blood vessel below aortic heart valve
|
0001682 |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Gait |
Inability to coordinate movements when walking
|
0002066 |
Hyperactivity |
More active than typical
|
0000752 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Sporadic |
No previous family history
|
0003745 |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 3q29 microdeletion syndrome.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss 3q29 microdeletion syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Unique Rare Chromosome Disorder Support Group, and Mulle JG. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry. Am J Med Genet. 2016 Apr; 170(4):999-1006.
References
- Quintero-Rivera F, Sharifi-Hannauer P, and Martinez-Agosto JA. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. American Journal of Medical Genetics. Part A.. October 2010; 152A(10):2459-2467. https://www.ncbi.nlm.nih.gov/pubmed/20830797.
- Dr. Lucy Raymond and Professor Maj Hultén. 3q29 deletions and microdeletions. Unique; 2013; https://www.rarechromo.org/information/Chromosome%20%203/3q29%20deletions%20and%20microdeletions%20FTNW.pdf.
- Carlos A Bacino, MD, FACMG, Helen V Firth, DM, FRCP, DCH, Elizabeth TePas, MD, MS. Microdeletion syndromes (chromosomes 1 to 11). UpToDate; July 15, 2015; https://www.uptodate.com/contents/microdeletion-syndromes-chromosomes-1-to-11.
- Dr. Nicole Morichon-Delvallez. 3q29 microdeletion syndrome. Orphanet; January 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65286.
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