Rare Hematology News

Disease Profile

Chromosome 10q deletion

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

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)

Deletion 10q; Monosomy 10q; 10q deletion;

Categories

Chromosome Disorders; Congenital and Genetic Diseases

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.

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
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

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 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.

      References

      1. 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.

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