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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Chromosome 3q29 microduplication syndrome


Other Names for this Disease

  • Microduplication 3q29 syndrome
  • Trisomy 3q29
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Symptoms

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What are the signs and symptoms of chromosome 3q29 microduplication syndrome?

The signs and symptoms of chromosome 3q29 microduplication syndrome appear to vary among affected individuals. This condition has reduced penetrance, which means that some individuals with this chromosome abnormality do not have any signs and symptoms and are clinically unaffected.[1] Developmental delay, abnormally small head size (microcephaly) and ophthalmologic (eye-related) findings seem to be the most common features.[2][1] Other signs and symptoms that have been reported in affected individuals include cardiac (heart) abnormalities; poor muscle tone (hypotonia); speech delay; craniosynostosis; high palate (roof of the mouth); dental abnormalities; conductive hearing loss (hearing loss due to mechanical problems in the outer or middle ear); musculoskeletal abnormalities; and seizures.[1]
Last updated: 6/1/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 3q29 microduplication syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of chromosome segregation 90%
Abnormality of the teeth 50%
Cognitive impairment 50%
Downslanted palpebral fissures 50%
Microcephaly 50%
Muscular hypotonia 50%
Obesity 50%
Aplasia/Hypoplasia of the iris 7.5%
Camptodactyly of toe 7.5%
Cataract 7.5%
Cleft palate 7.5%
Craniosynostosis 7.5%
Deep philtrum 7.5%
Ectopic anus 7.5%
Hearing impairment 7.5%
High forehead 7.5%
Iris coloboma 7.5%
Low-set, posteriorly rotated ears 7.5%
Macrocephaly 7.5%
Narrow forehead 7.5%
Opacification of the corneal stroma 7.5%
Sandal gap 7.5%
Seizures 7.5%
Short neck 7.5%
Toe syndactyly 7.5%
Ventricular septal defect 7.5%
Wide nasal bridge 7.5%
Microcephaly 4/5
Bulbous nose 3/4
Intellectual disability 3/4
Round face 3/4
Obesity 3/5
Multiple palmar creases 2/4
Pes planus 2/4
Short nose 2/4
Blepharophimosis 1/4
Downslanted palpebral fissures 1/4
Long face 1/4
Low posterior hairline 1/4
Wide nasal bridge 1/4
Macrocephaly 1/5
Autosomal dominant inheritance -
Large eyes -
Short palpebral fissure -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Goobie S et al. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenet Genome Res. 2008;
  2. Nicole MORICHON-DELVALLEZ. 3q29 microduplication. Orphanet. March 2011; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=19607. Accessed 5/30/2012.


Other Names for this Disease
  • Microduplication 3q29 syndrome
  • Trisomy 3q29
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.