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Disease Profile

Chromosome 1q41-q42 deletion syndrome

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

1q41-q42 deletion syndrome; 1q41-q42 microdeletion syndrome; Deletion 1q41-q42;

Categories

Congenital and Genetic Diseases

Summary

Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected.[1][2] Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short statureseizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features.[1][2][3] Researchers have suggested the features are caused by disruption of at least four genes.[1][4]

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
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Seizure
0001250
Severe global developmental delay
0011344
Short stature
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
Congenital diaphragmatic hernia
0000776
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Holoprosencephaly
0001360
Hypergonadotropic hypogonadism
0000815
Hyposegmentation of neutrophil nuclei
0011447
Hypotelorism
Abnormally close eyes
Closely spaced eyes

[ more ]

0000601
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Strabismus
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
Autosomal dominant inheritance
0000006
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Global developmental delay
0001263
Microcephaly
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

    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

        1. 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.
        2. 1q4 deletions: from 1q42 and beyond. Unique. 2013; https://www.rarechromo.org/information/Chromosome%20%201/1q4%20deletions%20FTNW.pdf.
        3. 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.
        4. 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.
        5. CHROMOSOME 1q41-q42 DELETION SYNDROME. OMIM. June 21, 2011; https://www.omim.org/entry/612530.