Trisomy 9 mosaicism FTNW Unique rarechromo org media information Chromosome 9 Trisomy 9 mosaicism FTNW pdf
Orphanet en disease Orphanet Mosaic trisomy 9 syndrome Mosaic trisomy 9 is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by intellectual disability growth and developmental People also search for
Trisomy 9 Email Facebook X LinkedIn Copy link
Genetic and Rare Diseases Information Center diseases 43 Mosaic trisomy 9 About the Disease GARD Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body In people affected by this condition some of the body 39 s cells have three copies of
National Organization for Rare Disorders rare diseases chromosome 9 trisomy 9p Trisomy 9p Multiple Variants Symptoms Causes Treatment Nov 6 2023 Trisomy 9p is a rare chromosomal syndrome in which a portion of the 9th chromosome appears three times trisomy rather than twice in cells of the body Chromosomes are
pmc ncbi nlm nih gov articles PMC8662755 Trisomy 9 mosaic syndrome Sixteen additional patients with Trisomy 9 mosaic syndrome T9M is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms cardiac genitourinary GU
Kaiser Permanente kbase topic Chromosome 9 Trisomy Mosaic Kaiser Permanente May 10 2008 Chromosome 9 Trisomy Mosaic also known as Trisomy 9 Mosaicism syndrome is a rare chromosomal disorder in which the entire 9th chromosome appears three times trisomy
Trisomy 9 Mosaic Syndrome
Unique media information Trisomy 9 mosaicism FTNW Unique Trisomy 9 mosaicism T9M is when some cells have an extra chromosome 9 and others do not It can cause developmental delay learning difficulties birth defects and
Trisomy 9 Mosaic Syndrome
Image researchgate net Trisomy 9 mosaicism T9M is a rare genetic condition caused by having an extra chromosome trisomy in some of the cells of the body Like most other chromosome disorders this makes developmental problems more likely
National Organization for Rare Disorders mondo disease mosaic trisomy 9 mosaic trisomy 9 National Organization for Rare Disorders Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body In people affected by this condition some of the body s cells have three copies of
Lurie Children 39 s en specialties conditions Trisomy 9 Mosaic T9M Syndrome Program Lurie Children 39 s Lurie Children s Trisomy 9 Mosaic Syndrome T9M Program is the first clinic in the world dedicated to the care and research of individuals with T9M a rare genetic
National Organization for Rare Disorders rare diseases chromosome 9 trisomy mosaic Mosaic Trisomy 9 Symptoms Causes Treatment NORD Diagnosis Symptoms Epidemiology Clinical significance Signs and symptoms Pathophysiology Genetics Cause Prevention Treatment Purpose Resources Selected publications As noted above mosaic trisomy 9 is characterized by an extra 9th chromosome trisomy 9 in some cells of the body mosaicism The range and severity of associated features may be variable depending on the percentage of cells in the body with an extra chromosome 9 trisomic cells In addition rare cases have also been reported in which all body cells have appeared to be trisomic for all of chromosome 9 such nonmosaic cases are sometimes referred to as full trisomy 9 syndrome According to investigators in such patients characteristic clinical features and affected organs do not substantially differ from those seen with trisomy 9 mosaicism However symptoms and findings associated with the latter may tend to be less severe in some cases due to the percentage of cells with an extra chromosome 9 Certain symptoms and findings associated with the following disorders may be similar to those of mosaic trisomy 9 Comparisons may be useful for a differential diagnosis Additional chromosomal disorders may be characterized by symptoms and findings similar to those associated with mosaic trisomy 9 Chromosomal testing is necessary to confirm the specific chromosomal abnormality present For further information on such disorders choose the name of the specific chromosomal disorder in question or use chromosome as your search term in the Rare Disease Database In some cases the diagnosis of mosaic trisomy 9 may be suggested before birth prenatally by ultrasound and various specialized tests that enable analysis of fluid or tissue samples extracted from the fetus or the uterus e g amniocentesis chorionic villus sampling CVS and or fetal blood sampling During fetal ultrasonography reflected sound waves create an image of the developing fetus potentially revealing certain characteristic findings that suggest a chromosomal disorder or other developmental problems During amniocentesis a sample of fluid that surrounds the developing fetus is removed and analyzed CVS involves the removal of tissue samples from a portion of the placenta the organ that supplies the developing fetus with nutrients and blood Fetal blood samples may be obtained with a needle guided via ultrasound into a blood vessel in the umbilical cord the structure that connects the fetus to the placenta Chromosomal studies performed on such fluid or tissue samples may reveal trisomy 9 mosaicism Experts indicate that the nature of mosaicism may complicate prenatal diagnosis for this chromosomal disorder This is because test samples may not be representative of the entire cell population of the fetus Different tissue types such as brain kidney or skin cells are composed of varying proportions of cells with the extra chromosome Therefore sampling from one tissue type such as blood may not accurately reflect the distribution of atypical and typical cell lines throughout the fetus In addition there have been cases reported in the medical literature in which prenatal testing detected mosaicism but the infant was born with typical chromosomes on postnatal testing It may be necessary to use multiple testing methods and to collect samples from various tissue sites in order to detect low level mosaicism Mosaic trisomy 9 may be diagnosed and or confirmed after birth postnatally by a thorough clinical evaluation identification of characteristic physical findings chromosomal analysis and other specialized tests In addition diagnostic evaluation may require various studies including advanced imaging techniques to help detect and or characterize certain anomalies that may be associated with the disorder e g craniofacial differences skeletal anomalies brain anomalies etc A thorough cardiac evaluation may be advised to detect any heart defects that may be present Such evaluation may include a thorough clinical examination evaluation of heart and lung sounds with a stethoscope x ray studies tests that record the electrical activities of the heart muscle electrocardiography EKG a technique in which sound waves are directed toward the heart enabling evaluations of cardiac motion and structure echocardiogram or other measures See full list on rarediseases org Mosaic trisomy 9 is commonly characterized by growth deficiency beginning before birth failure to grow and gain weight at the expected rate failure to thrive during infancy and low muscle tone hypotonia Some infants and children with mosaic trisomy 9 have feeding difficulties after birth and may require a feeding tube In addition many affected individuals have severe intellectual disability and severe delays in gaining skills relating to mental and physical activities However there have also been some reports in which individuals with the disorder have normal typical psychomotor development or are only mildly developmentally delayed Children that do have developmental or intellectual disabilities have not been shown to lose skills over time or regress Recent reports indicate that affected individuals possess strengths in language and communication development particularly receptive speech or their ability to understand language expressed to them as well as social emotional development In individuals with cardiac defects associated symptoms and concerns may vary depending upon the size nature and or combination of heart malformations present and other factors including age and respiratory function Some individuals may show no apparent symptoms asymptomatic while others may develop difficulties in feeding poor growth difficult or labored breathing dyspnea profuse sweating an impaired ability of the heart to pump blood efficiently to the lungs and other parts of the body heart failure and or other problems In severe cases congenital heart disease may lead to potentially life threatening complications Mosaic trisomy 9 is also often characterized by various problems with the muscles and bones These frequently include congenital dislocation of the hips developmental dysplasia of the hip atypical position and or limited function of other joints such as the elbows knees and or fingers and toes digits atypical curvature of the spine and or other complications Additional differences of the hands and feet may also be present such as underdevelopment hypoplasia of certain bones of the digits phalanges hypoplasia of the nails and or a single crease across the palms single transverse palmar crease Other skeletal differences have also been reported in association with the disorder including a narrow chest rib defects additional shape differences of certain bones of the spine vertebral anomalies and or other problems Affected males may also have genital complications including undescended testes cryptorchidism a small penis micropenis and or atypical placement of the urinary opening hypospadias such as on the underside of the penis Kidney renal complications may also be present in both males and females including renal cysts swelling distension of the kidneys with urine hydronephrosis due to narrowing or blockage of the tubes i e ureters that carry urine from the kidneys into the bladder and or other renal problems See full list on rarediseases org Previous studies have estimated that approximately 65 of affected individuals have congenital heart defects however more recent studies report lower numbers The most common defects include an abnormal opening in the partition septum that separates the two lower or upper chambers ventricles or atria of the heart called ventricular septal defects VSDs or atrial septal defects ASDs Other heart defects include patent ductus arteriosus PDA and or other associated defects that allow some oxygen rich blood to recirculate through the lungs and potentially lead to rising blood pressure in the lungs pulmonary hypertension Some individuals with mosaic trisomy 9 will have more than one heart defect Descriptions of heart defects is available here Mosaic trisomy 9 appears to affect males and females of all ethnicities in relatively equal numbers Since the disorder was originally described in 1973 Haslam RH over 55 cases have been reported in the medical literature See full list on rarediseases org Individuals with mosaic trisomy 9 may also experience respiratory issues including central and or obstructive apnea There are instances of short as well as long term need for oxygen via nasal canula and placement of a tracheotomy to assist with the airway A sleep study is often utilized to identify specific respiratory needs A bronchoscopy or similar procedure may be needed to determine anatomical anomalies affecting respiration Nebulizer treatments may be needed as well as deep suctioning to assist with mucus build up affecting breathing It is critical to include a pulmonologist on the medical team if these concerns persist especially when one or more cardiac defect is also present See full list on rarediseases org In some cases mosaic trisomy 9 may also be associated with brain anomalies such as hydrocephalus Dandy Walker malformation and or other features Hydrocephalus involves excess cerebrospinal fluid CSF on the brain resulting in increased pressure on the skull and widening of cavities ventricles of the brain CSF is the watery protective fluid that circulates through the four ventricles of the brain the canal containing the spinal cord spinal canal and the space between layers of the protective membranes meninges surrounding the brain and spinal cord i e subarachnoid space Depending on the age at symptom onset and other factors associated symptoms may include rapid enlargement of the head sudden episodes of uncontrolled electrical activity in the brain seizures feeding difficulties vomiting irritability headache loss of coordination worsening reduction in mental functioning and or other findings In severe cases potentially life threatening complications may result In those with Dandy Walker malformation cystic malformation of the fourth ventricle of the brain may lead to hydrocephalus a rapid increase in head size already defined in this paragraph with increased prominence of the back region of the head occiput and or additional associated anomalies A minority of affected individuals have agenesis of the corpus callosum or partial or complete absence agenesis of an area of the brain that connects the two cerebral hemispheres Agenesis of the corpus callosum can range in severity and may result in seizures and or developmental delays In some instances additional physical features have been reported in association with mosaic trisomy 9 Such abnormalities have included clouding of the cornea of the eye the presence of cysts on the eyeballs epibulbar dermoids underdevelopment of the lungs pulmonary hypoplasia diaphragmatic hernia gastroesophageal reflux and or other features Goldenhar syndrome oculo auriculo vertebral OAV spectrum is a rare disorder characterized by clinical features that may be extremely variable from person to person However primary features tend to include shape differences of the cheekbones jaws mouth ears eyes and or bones of the spinal column vertebrae Although such anomalies often are restricted to one side of the body unilateral both sides may sometimes be involved bilateral with one side more affected than the other asymmetry Associated craniofacial differences may include underdevelopment hypoplasia of the cheekbones the jaw bones and the bones forming a portion of the lower skull temporal hypoplasia incomplete development of certain facial muscles a wide mouth macrostomia cleft lip and cleft palate and or anomalies of the teeth Affected individuals may also have hypoplastic and or absent external ears pinnae and narrow blind ending or absent external ear canals microtia outgrowths of skin and cartilage on or in front of the ears preauricular tags and or problems affecting the middle and or inner ears contributing to or resulting in hearing impairment i e conductive and or sensorineural hearing loss Eye findings may include partial absence of tissue from the upper eyelids colobomas cysts on the eyeballs epibulbar dermoids and lipodermoids smallness of the eyes microphthalmia narrowing of the eyelid folds palpebral fissures and or deviation of one eye in relation to the other strabismus Some affected individuals also have incomplete development absence and or fusion of certain vertebrae The disorder may also be characterized by additional skeletal cardiac neurologic lung pulmonary renal and or gastrointestinal GI abnormalities See full list on rarediseases org In those with a diaphragmatic hernia there is protrusion of abdominal structures into the chest cavity through an abnormal opening in the diaphragm Gastroesophageal reflux is characterized by backflow reflux of stomach acid into the esophagus causing inflammation of and possible damage to the esophageal lining See full list on rarediseases org In individuals with mosaic trisomy 9 the entire 9th chromosome appears three times trisomy rather than twice in some cells of the body mosaicism Chromosomes are found in the nucleus or central part of all body cells They carry the genetic characteristics of each individual Pairs of human chromosomes are numbered from 1 through 22 with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females Each chromosome has a short arm designated as p a long arm identified by the letter q and a narrowed region at which the two arms are joined centromere Chromosomes are further subdivided into bands that are numbered outward from the centromere For example the short arm of chromosome 9 includes bands 9p11 to 9p24 and the long arm includes bands 9q11 to 9q34 The same chromosomal makeup is usually present in all body cells However those with a mosaicism have two or more cell lines that are chromosomally distinct In individuals with mosaic trisomy 9 there is trisomy three copies of chromosome 9 in a percentage of cells while other cells have a typical chromosomal makeup with two copies The additional chromosome causes the symptoms and physical findings phenotype that are seen in the disorder Individuals with a low percentage of affected cells low mosaicism may have fewer less severe symptoms than those with a high percentage of affected cells high mosaicism The percentage of mosaicism can fluctuate depending on where the sample is drawn cheek swab versus blood for example and the age of the individual Trisomy 9p is a rare chromosomal disorder in which a portion of the 9th chromosome appears three times trisomy rather than twice in cells of the body The trisomy may involve a portion of the short arm 9p the entire short arm or the short arm and a portion of the long arm 9q of chromosome 9 As noted above see Causes each chromosome contains a short arm known as p and a long arm designated as q with both arms further subdivided into bands that are numbered Evidence suggests that in many cases associated symptoms and findings may be relatively similar among affected infants despite differing lengths of the trisomic duplicated segment of 9p However in individuals with larger trisomies such as those that extend through bands 9q22 or 9q32 additional clinical findings may also be present that appear to correlate with the extent of the duplication See full list on rarediseases org Mosaic trisomy 9 appears to result from errors of chromosomal separation nondisjunction during meiosis which is the division of reproductive cells sperm or eggs in the parents It has also been shown to occur during cellular division after fertilization mitosis There have been some reports in which the disorder has appeared to occur due to a balanced chromosomal rearrangement known as a pericentric inversion in one of the parents A pericentric inversion is characterized by breakage of a chromosome in two places including the centromere and reunion of the segment in the reverse order If a chromosomal rearrangement is balanced meaning that the genetic material is in a different order but is in the correct quantity it is usually harmless to the carrier However such a chromosomal rearrangement may result in a child with unbalanced genetic material OAV spectrum usually appears to occur sporadically in the absence of a family history However in some cases more than one family member has been affected suggesting autosomal dominant or autosomal recessive inheritance Some researchers indicate that the disorder may be caused by the interaction of multiple genes possibly in association with environmental factors multifactorial inheritance For further information choose Goldenhar as your search term in the Rare Disease Database See full list on rarediseases org Chromosome studies and genetic counseling are typically recommended for parents with an affected child These can help confirm or exclude the presence of a pericentric inversion or other chromosomal rearrangement involving chromosome 9 in one of the parents In addition knowing the chromosome structure of the parents can inform them of their risk to have another affected child See full list on rarediseases org Treatment The treatment of mosaic trisomy 9 is directed toward the specific symptoms that are apparent in each individual Such treatment requires the coordinated efforts of a team of medical professionals such as pediatricians surgeons heart specialists cardiologists physicians who diagnose and treat problems of the skeleton joints muscles and related tissues orthopedists neurologists and or other health care professionals In affected individuals with congenital heart defects treatment with specific medications surgical intervention and or other measures may be required For those with hydrocephalus disease management may include administration of specific medications to help reduce the rate of cerebrospinal fluid CSF production shunting or other measures Shunts are specialized devices that drain excess CSF away from the brain to another part of the body for absorption into the bloodstream In addition in some cases physicians may recommend surgical repair or correction of other craniofacial musculoskeletal genital and or other complications associated with the disorder The specific surgical procedures performed will depend upon the nature and severity of the anatomical differences their associated symptoms and other factors Early intervention services may also be important in ensuring that affected children reach their potential Special services that may be beneficial include special remedial education physical therapy occupational therapy speech therapy feeding therapy and or other medical social and or vocational services Genetic counseling is recommended for families of affected children Other treatment for this disorder is symptomatic and supportive See full list on rarediseases org The Tracking Rare Incidence Syndromes TRIS project is designed to raise awareness and provide support for families and professionals involved in the care of children and adults with rare trisomy conditions The TRIS project seeks to increase the knowledge base on rare incidence trisomy conditions and to make this information available to families and interested educational medical and therapeutic professionals For more information contact See full list on rarediseases org Information on current clinical trials is posted on the Internet at www clinicaltrials gov All studies receiving U S government funding and some supported by private industry are posted on this government web site Bruns DA Campbell E Twenty five additional cases of trisomy 9 mosaic Birth information medical conditions and developmental status Am J Med Genet Part A 2015 167A 9971007 Bruns DA Presenting physical characteristics medical conditions and developmental status of long term survivors with trisomy 9 mosaicism Am J Med Genet Part A 2011 155 10331039 See full list on rarediseases org Jones KL Smiths Recognizable Patterns of Human Malformation 7th ed Philadelphia PA W B Saunders Company 2013 See full list on rarediseases org
Wikipedia wiki Trisomy 9 Trisomy 9 Wikipedia Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies of chromosome number 9 It can be a viable condition if the trisomic component