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Disease Profile
Partial deletion of the short arm of chromosome 3
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.
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Age of onset
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ICD-10
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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)
Partial deletion 3p; 3p partial deletion; Partial monosomy 3p;
Categories
Chromosome Disorders
Summary
Symptoms
Signs and symptoms may include:[1][2][3][4]
Developmental delay Intellectual disability - Autism spectrum disorder
- Low birth weight
- Feeding problems
Hypotonia - Distinctive craniofacial features (such as wide-spaced eyes; low-set ears; cleft lip and/or palate;
ptosis ) Microcephaly (small head)Seizures Hearing loss Congenital heart defects Scoliosis or other skeletal problems- Extra fingers and/or toes
- Kidney problems
- Genital abnormalities
Cause
Diagnosis
Karyotype a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions.- FISH a laboratory technique that is used to detect and locate a specific
DNA sequence on a chromosome. During FISH, a chromosome is exposed to a smallDNA sequence called aprobe that has a fluorescentmolecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 3p. - Array CGH a technology that detects deletions that are too small to be seen on karyotype.
Treatment
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: [email protected]
Website: https://www.rarechromo.org/
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
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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 Partial deletion of the short arm of chromosome 3.
3p25 deletions
3p26 deletions
In-Depth Information
- 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 Partial deletion of the short arm of chromosome 3. Click on the link to view a sample search on this topic.
References
- 3p25 Deletions. Unique. 2014; https://www.rarechromo.org/information/Chromosome%20%203/3p25%20deletions%20FTNW.pdf.
- 3p26 Deletions. Unique. 2013; https://www.rarechromo.org/information/Chromosome%20%203/3p26%20deletions%20FTNW.pdf.
- Lloveras E, Vendrell T, Fernández A, Castells N, Cueto A, Del Campo M, Hernando C, Villa O, Plaja A. Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome. Cytogenet Genome Res. Feb 2015; [Epub ahead of print]:
- Mersal AY, Basha MK, Brinji ZS, Avand G. A Saudi Patient with an Interstitial Deletion of Short Arm of Chromosome 3 (p13 to p21) and its Association with Joubert's Syndrome Features. J Clin Neonatol. January 2013; 2(1):46-49.
- Chromosome 3, Monosomy 3p. NORD. 2009; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/993/viewAbstract.
- Microarray-based Comparative Genomic Hybridisation (Array CGH). Unique. 2015; https://www.rarechromo.org/information/other/array%20cgh%20ftnw.pdf.
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