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Disease Profile
Mosaic trisomy 9
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.
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Age of onset
Neonatal
ICD-10
Q92.1
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)
Mosaic trisomy chromosome 9; Trisomy 9 mosaicism
Categories
Chromosome Disorders; Congenital and Genetic Diseases
Summary
Mosaic
Symptoms
- Different degrees of
developmental delay andintellectual disability - Abnormal growth including low birth weight, failure to thrive,
hypotonia (low muscle tone), andshort stature - Characteristic craniofacial features such as
microcephaly (unusually small head); a sloping forehead with narrow temples; a broad nose with a bulbous tip and "slitlike" nostrils; a small jaw; abnormally wide fontanelles at birth; cleft lip and/or palate; low-set, misshapen ears; microphthalmia (unusually small eyes) and/or short, upwardly slanting eyelid folds (palpebral fissures) - Vision problems
Congenital heart defects - Abnormalities of the muscles and/or bones such as
congenital dislocation of the hips; abnormal position and/or limited function of the joints; underdevelopment of certain bones; and/or abnormal curvature of the spine - Unusually formed feet, such as club foot or "rocker bottom" feet
- Abnormalities of the male reproductive system, including undescended
testes , a small penis, and/or abnormal placement of the urinary opening - Kidney problems
- Brain malformations such as
hydrocephalus and/or Dandy-Walker malformation
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 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Global developmental delay | 0001263 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
30%-79% of people have these symptoms | ||
Bulbous nose | 0000414 | |
Facial cleft |
Cleft of the face
|
0002006 |
Finger clinodactyly | 0040019 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypoplastic female external genitalia |
Underdeveloped female external genitalia
|
0012815 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ] |
0001838 |
Short neck |
Decreased length of neck
|
0000470 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
5%-29% of people have these symptoms | ||
Abnormal fallopian tube morphology | 0011027 | |
Abnormal heart valve morphology | 0001654 | |
Abnormal liver lobulation | 0100752 | |
Abnormal lung lobation | 0002101 | |
Abnormality of the uterus |
Uterine abnormalities
Uterine malformations
[ more ] |
0000130 |
Asplenia |
Absent spleen
|
0001746 |
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 |
Biparietal narrowing | 0004422 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cleft roof of mouth
|
0000175 | |
Corneal opacity | 0007957 | |
Cystic hygroma | 0000476 | |
Dandy-Walker malformation | 0001305 | |
Deep palmar crease |
Deep palm line
|
0006191 |
Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
Dextrocardia |
Heart tip and four chambers point towards right side of body
|
0001651 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
Endocardial fibroelastosis | 0001706 | |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Hydronephrosis | 0000126 | |
Hydrops fetalis | 0001789 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Intestinal malrotation | 0002566 | |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
Patent ductus arteriosus | 0001643 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
Renal dysplasia | 0000110 | |
0002650 | ||
Single umbilical artery |
Only one artery in umbilical cord instead of two
Cause Most cases of mosaic
In other cases, the egg and sperm may have a normal number of chromosomes, but an error of cell division (nondisjunction) occurs when the fertilized egg is growing and dividing. If an error occurs during one of the divisions, it can cause some cells to have an abnormal number of chromosomes. In people affected by mosaic trisomy 9, some of the body's cells have the usual two copies of chromosome 9, and other cells have three copies of this chromosome (trisomy). The percentage of cells with trisomy 9 and which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms.[1][2] In rare cases, mosaic trisomy 9 is Diagnosis In some cases, mosaic
In other cases, the child is not diagnosed until after birth. Mosaic trisomy 9 may be suspected after characteristic signs and symptoms are identified on physical exam. A diagnosis can be confirmed by examining the child's chromosomes from a sample of blood.[2] Treatment Because mosaic
OrganizationsSupport 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 moreThese 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
In-Depth Information
References
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