Rare Pulmonology News
Advertisement
Disease Profile
Chromosome 4q deletion
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
Deletion 4q; Monosomy 4q; 4q deletion;
Categories
Chromosome Disorders
Summary
Symptoms
- Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and
micrognathia - Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs)
- Heart defects and/or arrhythmias
Hypotonia (reduced muscle tone)Seizures Short stature Developmental delay Intellectual disability Metabolic disorders - Gastrointestinal problems
- Kidney abnormalities
Cause
- BMP3 skeletal abnormalities and
short stature - SEC31A distinctive craniofacial features
- PKD2 kidney abnormalities
- GRID2, NEUROG2 neurological problems such as
seizures ,hypotonia , and delayed motor development (i.e. sitting up, walking, etc) - ANK2, HAND2 heart defects and/or arrhythmias
- FGF2 limb (arms and legs) abnormalities
Researchers are working to learn more about the other genes on 4q that may contribute to the features seen in people with a chromosome 4q deletion.
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 4q. - Array CGH a technology that detects deletions that are too small to be seen on karyotype.
Treatment
Please speak to your healthcare provider if you have any questions about your personal medical management plan.
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
-
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 Chromosome 4q deletion.
4q deletions between 4q11 and 4q22
4q deletions between 4q21and 4q22
4q deletions between 4q21and 4q31
4q deletions from 4q31and beyond
In-Depth Information
- PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 4q deletion. Click on the link to view a sample search on this topic.
References
- Strehle EM, Bantock HM.. The phenotype of patients with 4q-syndrome. Genet Couns. 2003; 14(2):195-205. https://www.ncbi.nlm.nih.gov/pubmed/12872814.
- Markiewicz MR, Verschueren D, Assael LA. Chromosome 4q deletion syndrome: craniofacial characteristics associated with monosomy of the long arm of chromosome 4q. Cleft Palate Craniofac J. September 2010; 47(5):518-522. https://www.ncbi.nlm.nih.gov/pubmed/20170389.
- Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A. September 2012; 158A(9):2139-2151. https://www.ncbi.nlm.nih.gov/pubmed/22847869.
- Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW. Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3. Am J Med Genet A. March 2012; 158A(3):635-640. https://www.ncbi.nlm.nih.gov/pubmed/22302627.
- Chromosome 4, Monosomy 4q. NORD. August 2007; https://rarediseases.org/rare-disease-information/rare-diseases/byID/793/viewAbstract.
- Microarray-based Comparative Genomic Hybridisation (Array CGH). Unique. 2015; https://www.rarechromo.org/information/other/array%20cgh%20ftnw.pdf.
Rare Pulmonology News