Chromosome 10q deletion

Title

Other Names:

Deletion 10q; Monosomy 10q; 10q deletion; Deletion 10q; Monosomy 10q; 10q deletion; 10q monosomy; Partial monosomy 10q See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases

This disease is grouped under:

10q22.3q23 microdeletion syndrome

Summary Summary

Chromosome 10q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 10. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 10q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features.^[1] Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

Last updated: 12/9/2015

Symptoms 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.

Showing of 86 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Global developmental delay		0001263
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Specific learning disability		0001328
30%-79% of people have these symptoms
Enlarged cisterna magna		0002280
Enuresis		0000805
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Infantile muscular hypotonia	Decreased muscle tone in infant	0008947
Lower limb hyperreflexia	Overactive lower leg reflex	0002395
Poor speech		0002465
Postnatal growth retardation	Growth delay as children	0008897
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Thin upper lip vermilion	Thin upper lip	0000219
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
5%-29% of people have these symptoms
2-3 toe cutaneous syndactyly	Webbed skin of 2nd-3rd toes	0005709
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Brachydactyly	Short fingers or toes	0001156
Cavum septum pellucidum		0002389
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Cleft palate	Cleft roof of mouth	0000175
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Clonus		0002169
Congenital sensorineural hearing impairment		0008527
Dilation of lateral ventricles		0006956
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Facial diplegia		0001349
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
High palate	Elevated palate Increased palatal height [ more ]	0000218
Horseshoe kidney	Horseshoe kidneys	0000085
Inferior vermis hypoplasia		0007068
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Oculomotor apraxia		0000657
Patent ductus arteriosus		0001643
Pes planus	Flat feet Flat foot [ more ]	0001763
Pes valgus		0008081
Poor fine motor coordination		0007010
Premature birth	Premature delivery of affected infants Preterm delivery [ more ]	0001622
Prominent nasal bridge	Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ]	0000426
Prominent nose	Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ]	0000448
Sandal gap	Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ]	0001852
Seizure		0001250
Short metatarsal	Short long bone of foot	0010743
Short stature	Decreased body height Small stature [ more ]	0004322
Single transverse palmar crease		0000954
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Smooth philtrum		0000319
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182
Unsteady gait	Unsteady walk	0002317
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Vesicoureteral reflux		0000076
1%-4% of people have these symptoms
Acute kidney injury		0001919
Anal atresia	Absent anus	0002023
Anxiety	Excessive, persistent worry and fear	0000739
Ataxia		0001251
Brachycephaly	Short and broad skull	0000248
Broad forehead	Increased width of the forehead Wide forehead [ more ]	0000337
Cochlear malformation		0008554
Craniosynostosis		0001363
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Frontal bossing		0002007
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Hip dysplasia		0001385
Hypoplastic toenails	Underdeveloped toenails	0001800
Hypotelorism	Abnormally close eyes Closely spaced eyes [ more ]	0000601
Lumbar hyperlordosis	Excessive inward curvature of lower spine	0002938
Morphological abnormality of the vestibule of the inner ear		0011376
Narrow forehead	Decreased width of the forehead	0000341
Pectus excavatum	Funnel chest	0000767
Prominent fingertip pads	Prominent finger pads	0001212
Prominent metopic ridge		0005487
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Scapular winging	Winged shoulder blade	0003691
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Spina bifida occulta		0003298
Triangular face	Face with broad temples and narrow chin Triangular facial shape [ more ]	0000325
Widow's peak	Hairline peak Hairline point Pointed hairline at front of head V-shaped frontal hairline [ more ]	0000349

Showing of 86 |

Last updated: 7/1/2020

Organizations 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 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

Genetics Home Reference (GHR) contains information on Chromosome 10q deletion. This website is maintained by the National Library of Medicine.
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 10q25 and 10q26 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.
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 10q deletion. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

GARD Answers GARD Answers

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. Submit a new question

Our child was recently diagnosed with 10q22.3q23.2 microdeletion syndrome. She was also diagnosed with mannose binding lectin deficiency. With these both stemming from Chromosome 10 is there any additional information on these specific deletions and if there is a relation between the two? Additionally, is there any information on what possible health risks we should look out for (crohn's disease, heart, liver etc). Thank you for your time. See answer

References References

Yatsenko SA1, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet. July 2009; 76(1):54-62.

You can help advance
rare disease research! You can help advance rare disease research!

Find out how with the NCATS Toolkit.