National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 1q41-q42 deletion syndrome


Other Names:
1q41-q42 deletion syndrome; 1q41-q42 microdeletion syndrome; Deletion 1q41-q42; 1q41-q42 deletion syndrome; 1q41-q42 microdeletion syndrome; Deletion 1q41-q42; Monosomy 1q41-q42 See More
Categories:
This disease is grouped under:
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 stature; seizures; 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]
Last updated: 5/26/2016

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.

Showing of 37 |
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
Showing of 37 |
Last updated: 7/1/2020
It is difficult to predict the long-term outlook for children with 1q4 deletions because in many cases, this chromosome disorder has been diagnosed with certainty in recent years, and very few adults with the condition have described. It is generally expected that most children will need lifelong care and medical support.[2] Furthermore, prognosis and life expectancy varies with each individual, based on both how mildly or severely affected the individual is, and which signs and symptoms are present.
Last updated: 5/26/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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

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

  • Genetics Home Reference (GHR) 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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. http://www.ncbi.nlm.nih.gov/pubmed/20358614.
  2. 1q4 deletions: from 1q42 and beyond. Unique. 2013; http://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. http://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; http://www.omim.org/entry/612530.