We describe a male infant with partial tetrasomy 21 whose examination was consistent with but not typical of trisomy 21. (bmj.com)
Chromosome8
A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome. (wikipedia.org)
In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. (medlineplus.gov)
Distal tetrasomy 15q is a rare chromosomal disorder caused by the presence of an extra copy of genetic material on the long arm (q) of chromosome 15. (rarediseaseshealthcenter.com)
Tetrasomy 6p caused by a small supernumerary marker chromosome presenting Trisomy distal 6p Phenotype. (chromodisorder.org)
A tetrasomy and a pentasomy are the presence of a respectively four or five copies of a chromosome. (wikidoc.org)
Cody has Tetrasomy 9P, meaning he has four copies of his ninth chromosome while most people have two. (theodysseyonline.com)
In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)
Numerical abnormalities occur when a person has one or more extra copies of a chromosome (for example, one extra is trisomy, and two extra is tetrasomy) or is missing a chromosome (monosomy). (msdmanuals.com)
Trisomy2
By using the der(19)t(17;19) as clonal marker, we found that i(5)(p10) and tetrasomy 8 were secondary genetic events and that tetrasomy 8 had clonally evolved from trisomy 8. (biomedcentral.com)
In addition, our case supports the hypothesis of a step-wise clonal evolution from trisomy 8 to tetrasomy 8 in AML. (biomedcentral.com)
Mosaic tetrasomy2
Diagnosis and clinical delineation of mosaic tetrasomy 5p. (nih.gov)
Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review. (nih.gov)
Mosaicism associated1
Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. (upd-tl.com)
Syndrome3
The inv dup (15) or idic (15) syndrome ( Tetrasomy 15q). (nih.gov)
E ditor -Tetrasomy 21 without mosaicism has previously been described in four liveborn children, two of whom had physical features consistent with Down syndrome. (bmj.com)
On August 20, 2018, we added five conditions -Fibrolamellar Cancer, Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS), Megalencephaly Capillary Malformation Syndrome (MCAP), Superficial Siderosis of the Central Nervous System, and Tetrasomy 18p-to this essential list. (ssa.gov)
Chromosomal condition2
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. (medlineplus.gov)
She now resides in Victoria, British Columbia with her daughter, Shelby, who was born with a very rare chromosomal condition known as Tetrasomy 18p. (camilladowns.com)
Isochromosome1
Some chromosomal abnormalities albeit recurrent are rare such as tetrasomy 8 or isochromosome 5p. (biomedcentral.com)
Dysfunction1
CD64 plays an important role in the immune response and its dysfunction has been studied in cervical adenitis and tetrasomy 21. (thermofisher.com)
Occurs2
Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis). (wikipedia.org)
Tetrasomy 18p occurs randomly in one out of 140,000 births. (trisomy.org)
The symptoms of Distal tetrasomy 15q vary depending on the severity of the condition. (rarediseaseshealthcenter.com)
Disorder1
Psychiatric conditions, such as attention-deficit/hyperactivity disorder (ADHD) and anxiety, as well as social and behavioral challenges have also been reported in some people with tetrasomy 18p. (medlineplus.gov)
Families1
Genetic counseling is also recommended for families affected by Distal tetrasomy 15q. (rarediseaseshealthcenter.com)
Form1
Here, we report on an 8-year-old girl with phylloid hypomelanosis and precocious puberty who was found to have mosaicism for tetrasomy 13q in the form of inverted dup(13)(q21) on her skin fibroblasts as well as peripheral blood karyotype. (nih.gov)
Report2
To our knowledge, this is the first report of CPM for tetrasomy 9p. (ox.ac.uk)
Here we report a unique case of acute monoblastic leukemia with gain of i(5)(p10), tetrasomy 8, an unbalanced translocation der(19)t(17;19)(q23;p13.3) and mutated NPM1 . (biomedcentral.com)
Chromosomes5
FISH analysis revealed a significant increase in tetrasomy 8 frequency, but not in other chromosomes examined. (nih.gov)
Tetrasomy of all six chromosomes was present in two high-grade SILs but no ISCCs. (dundee.ac.uk)
Poor correlation between the presence of tri-/tetrasomy and overexpression was observed for chromosomes 14 and 17. (birmingham.ac.uk)
Tetrasomy of chromosomes 1, 3, 11, 17, 18, and X was present in nine lesions, all of which were infected with high-risk HPVs, but was not related to the pattern of cyclin expression. (dundee.ac.uk)
The finding of equal allele dosage for tetrasomy 21 suggests that hyperdiploidy originates in a single aberrant mitosis, though a sequential gain of chromosomes other than 21 in consecutive cell divisions remains a possibility. (ashpublications.org)
Amniocentesis3
Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. (nih.gov)
Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues. (bvsalud.org)
A third amniocentesis at 27 weeks of gestation revealed a karyotype of 46, XX (10/10 colonies) in cultured amniocytes, and interphase FISH analysis on uncultured amniocytes revealed 20% (20/100 cells ) mosaicism for tetrasomy 9p. (bvsalud.org)
Mosaic1
Prenatal diagnosis of mosaic tetrasomy 18p. (nih.gov)
Cytogenetics2
Tetrasomy 8 detected by interphase cytogenetics in a child with acute lymphocytic leukemia. (nih.gov)
Here we present a case of a 7-year-old boy with acute lymphoblastic leukemia (ALL) displaying a tetrasomy 8 clone that could not be detected by conventional cytogenetics. (nih.gov)
Mosaicism1
When follow-up at age two months, the neonate was phenotypically normal, the peripheral blood had a karyotype of 47,XX,+idic (9) (q12)[18]/46,XX [22], and interphase FISH analysis on 100 buccal mucosal cells revealed 1% (1/100 cells ) mosaicism for tetrasomy 9p. (bvsalud.org)
Our findings indicate the utility of FISH analysis in cytogenetic monitoring of leukemia patients and further show that tetrasomy 8 may play a specific role in a subtype of ALL. (nih.gov)
Anomaly1
Tetrasomy 8 is a rare clonal anomaly in human acute leukemia. (nih.gov)
Cells1
Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis). (wikipedia.org)