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Disease Profile
Chromosome 1q41-q42 deletion 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)
1q41-q42 deletion syndrome; 1q41-q42 microdeletion syndrome; Deletion 1q41-q42;
Categories
Congenital and Genetic Diseases
Summary
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 | ||
Frontal bossing | 0002007 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
0001250 | ||
Severe global |
0011344 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Small nail |
Small nails
|
0001792 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
5%-29% of people have these symptoms | ||
Abnormality iris morphology |
Abnormality of the iris
|
0000525 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
0000776 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Holoprosencephaly | 0001360 | |
Hypergonadotropic |
0000815 | |
Hyposegmentation of neutrophil nuclei | 0011447 | |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Submucous cleft hard palate | 0000176 | |
Percent of people who have these symptoms is not available through HPO | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
0000006 | ||
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Global developmental delay | 0001263 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Preauricular skin tag | 0000384 | |
Sporadic |
No previous family history
|
0003745 |
Vertebral segmentation defect | 0003422 |
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: info@rarechromo.org
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
- MedlinePlus Genetics contains information on chromosome 1. Click on the link to go to GHR and review the information.
- Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 1q4 deletions.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 Chromosome 1q41-q42 deletion syndrome. Click on the link to view a sample search on this topic.
References
- Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. American Journal of Medical Genetics. April 2010; 152A(4):987-993. https://www.ncbi.nlm.nih.gov/pubmed/20358614.
- 1q4 deletions: from 1q42 and beyond. Unique. 2013; https://www.rarechromo.org/information/Chromosome%20%201/1q4%20deletions%20FTNW.pdf.
- Johnson VP, Heck LJ, Carter GA, Flom JO. Deletion of the distal long arm of chromosome 1: a definable syndrome. American Journal of Medical Genetics. December 1985; 22(4):685-94. https://www.ncbi.nlm.nih.gov/pubmed/4073121.
- Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A.. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.. Am J Med Genet A. 2014 Feb; 164A(2):441-8. https://www.ncbi.nlm.nih.gov/pubmed/24357076.
- CHROMOSOME 1q41-q42 DELETION SYNDROME. OMIM. June 21, 2011; https://www.omim.org/entry/612530.