Trisomy Mosaicism: Difference between revisions
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This page gives a general introduction to information about the genetic abnormality of {{trisomy mosaicism}}. The term "trisomy" refers to the abnormal copy number of a specific chromosome in all cells, that is 3 copies instead of 2. The abnormality is identified by the chromosome that is present as 3 copies within the cell. In humans, the most common trisomy is {{trisomy 21}} or Down syndrome. Other identified human trisomies include {{Trisomy 13}}, {{Trisomy 18}} and {{Trisomy X}}. | This page gives a general introduction to information about the genetic abnormality of {{trisomy mosaicism}}. The term "trisomy" refers to the abnormal copy number of a specific chromosome in all cells, that is 3 copies instead of 2. The abnormality is identified by the chromosome that is present as 3 copies within the cell. In humans, the most common trisomy is {{trisomy 21}} or Down syndrome. Other identified human trisomies include {{Trisomy 13}}, {{Trisomy 18}} and {{Trisomy X}}. | ||
In contrast, a "mosaicism" is a rare chromosome disorder characterized by having an extra copy of a chromosome in a proportion, but not all, of a person’s cells. These are examples of a class of very rare and not inherited genetic disorders. | In contrast, a "mosaicism" is a rare chromosome disorder characterized by having an extra copy of a chromosome in a proportion, but not all, of a person’s cells. These are examples of a class of very rare and not inherited genetic disorders. Mosaicism can arise initially meiotically, with a subsequent post-zygotic 'trisomy rescue' event, with adverse outcomes. Some mosaics could also be initially chromosomally normal, and arise purely post-zygotically.{{#pmid:29945889|PMID29945889}} | ||
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Revision as of 14:03, 19 March 2019
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Introduction
This page gives a general introduction to information about the genetic abnormality of trisomy mosaicism. The term "trisomy" refers to the abnormal copy number of a specific chromosome in all cells, that is 3 copies instead of 2. The abnormality is identified by the chromosome that is present as 3 copies within the cell. In humans, the most common trisomy is Trisomy 21 or Down syndrome. Other identified human trisomies include Trisomy 13, Trisomy 18 and Trisomy X.
In contrast, a "mosaicism" is a rare chromosome disorder characterized by having an extra copy of a chromosome in a proportion, but not all, of a person’s cells. These are examples of a class of very rare and not inherited genetic disorders. Mosaicism can arise initially meiotically, with a subsequent post-zygotic 'trisomy rescue' event, with adverse outcomes. Some mosaics could also be initially chromosomally normal, and arise purely post-zygotically.[1]
Some Recent Findings
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More recent papers |
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Older papers |
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These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table.
See also the Discussion Page for other references listed by year and References on this current page. |
Trisomy 22 Mosaicism
Rare Disease Database - The characteristic features of mosaic trisomy 22 typically include prenatal and postnatal growth failure or delay, asymmetrical development of the two sides of the body (hemidystrophy), congenital heart defects. While some patients with mosaic trisomy 22 have abnormal cognitive development, normal development has been documented for some children."
Trisomy 18 Mosaicism
Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18?[2] - "Blood lymphocyte and skin fibroblast karyotypes were normal. He died in the neonatal period of postoperative complications. On interphase fluorescence in-situ hybridization (FISH) using autopsy specimens, a significant number of cells in the liver (17%) were trisomic for chromosome 18, compared to normal control liver tissue. However, interphase FISH analyses of blood lymphocytes, skin fibroblasts, and kidney tissue were normal."
Trisomy 17 Mosaicism
NIH - rare diseases - "Some cases of trisomy 17 mosaicism detected during pregnancy have been confirmed in the baby after birth. The symptoms reported include: developmental delays, body asymmetry, slow growth, and cerebellar hypoplasia. Again, signs and symptoms may vary in these individuals depending on which cells and how many cells contain an extra chromosome 17."
Trisomy 14 Mosaicism
Rare Disease Database - "The disorder may be characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; delays in the acquisition of skills requiring the coordination of mental and physical abilities (psychomotor delays); and mental retardation. Affected infants also have distinctive abnormalities of the head and facial (craniofacial) region, such as a prominent forehead; deeply set, widely spaced eyes; a broad nasal bridge; and low-set, malformed ears. Additional craniofacial abnormalities may include an unusually small lower jaw (micrognathia); a large mouth and thick lips; and incomplete closure or abnormally high arching of the roof of the mouth (palate). Many affected infants also have structural malformations of the heart (e.g., tetralogy of Fallot). In some cases, additional physical abnormalities may also be present."
Trisomy 12 Mosaicism
Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.[3] - "meiotic origin of the trisomy, maternal meiosis I, was determined. Mosaic aneuploidy was suspected because of pigmentary dysplasia, a frequent but non-specific finding in chromosomal mosaicism. The severe phenotype of this child, who died in infancy with a complex heart malformation, was probably a result of the high percentage of trisomic cells. Cytogenetic and interphase fluorescent in situ hybridization analyses showed a highly variable distribution of aneuploid cells in the nine tissues studied, from none in blood and ovary to 100% in spleen and liver."
Trisomy 9 Mosaicism
Rare Disease Database - "Associated symptoms and findings may vary greatly in range and severity, depending on the percentage of cells with the extra chromosome. However, common features include growth deficiency before birth (intrauterine growth restriction or IUGR); structural malformations of the heart that are present at birth (congenital heart defects); and/or distinctive differences in the shape of the skull and facial (craniofacial) region, such as a sloping forehead, a bulbous nose, short eyelid folds (palpebral fissures), deeply set eyes, and/or low-set ears. The syndrome may also be characterized by musculoskeletal, genital, kidney (renal), and/or additional physical anomalies. Intellectual disability is common and varies in severity."
Trisomy 8 Mosaicism
NIH - rare diseases - "The signs and symptoms vary, but may include distinctive facial features; intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females."
Trisomy 2 Mosaicism
Prenatal diagnosis of trisomy 2 mosaicism[4] NIH - rare diseases - "Features of trisomy 2 mosaicism may include intrauterine growth restriction (IUGR), any of various birth defects, distinctive facial features, growth delay, developmental delays, and intellectual disabilities.[1][2] However, children with trisomy 2 mosaicism with no significant medical problems have been reported (although long-term follow-up was not available)."
Genetic Abnormality Topics
These statistics do not directly relate to trisomy mosaicism frequency, but that of genetic risk related to maternal age for all abnormalities.
Genetic Risk Maternal Age
Table Data[5][6][7]
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References
- ↑ Griffin DK & Ogur C. (2018). Chromosomal analysis in IVF: just how useful is it?. Reproduction , 156, F29-F50. PMID: 29945889 DOI.
- ↑ Shashi V, Golden WL, von Kap-Herr C & Wilson WG. (1996). Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18?. Am. J. Med. Genet. , 62, 38-41. PMID: 8779322 <38::AID-AJMG8>3.0.CO;2-S DOI.
- ↑ DeLozier-Blanchet CD, Roeder E, Denis-Arrue R, Blouin JL, Low J, Fisher J, Scharnhorst D & Curry CJ. (2000). Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child. Am. J. Med. Genet. , 95, 444-9. PMID: 11146464
- ↑ Sifakis S, Velissariou V, Papadopoulou E, Petersen MB & Koumantakis E. (2004). Prenatal diagnosis of trisomy 2 mosaicism: a case report. Fetal. Diagn. Ther. , 19, 488-90. PMID: 15539872 DOI.
- ↑ Hook EB. (1981). Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol , 58, 282-5. PMID: 6455611
- ↑ Hook EB, Cross PK & Schreinemachers DM. (1983). Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA , 249, 2034-8. PMID: 6220164
- ↑ Schreinemachers DM, Cross PK & Hook EB. (1982). Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20 000 prenatal studies compared with estimated rates in live births. Hum. Genet. , 61, 318-24. PMID: 6891368
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Terms
- anaphase - (Greek, ana = up, again) Cell division term referring to the fourth mitotic stage, where the paired chromatids now separate and migrate to spindle poles. This is followed by telophase.
- Mitosis Phases: prophase - prometaphase - metaphase - anaphase - telophase
- anaphase B - Cell division term referring to the part of anaphase during which the poles of the mitotic spindle move apart. (More? Cell Division - Mitosis)
- aneuploidy - Genetic term used to describe an abnormal number of chromosomes mainly (90%) due to chromosome malsegregation mechanisms in maternal meiosis I.
- disomy - Genetic term referring to the presence of two chromosomes of a homologous pair in a cell, as in diploid. See chromosomal number genetic disorders uniparental disomy and aneuploidy. Humans have pairs usually formed by one chromosome from each parent.
- meiosis I (MI) The first part of meiosis resulting in separation of homologous chromosomes, in humans producing two haploid cells (N chromosomes, 23), a reductional division.
- Meiosis I: Prophase I - Metaphase I - Anaphase I - Telophase I
- meiosis II - (MII) The second part of meiosis. In male human spermatogenesis, producing of four haploid cells (23 chromosomes, 1N) from the two haploid cells (23 chromosomes, 1N), each of the chromosomes consisting of two sister chromatids produced in meiosis I. In female human oogenesis, only a single haploid cell (23 chromosomes, 1N) is produced.
- Meiosis II: Prophase II - Metaphase II - Anaphase II - Telophase II
- prometaphase - (Greek, pro = before) Cell division term referring to the second mitotic stage, when the nuclear envelope breaks down into vesicles. Microtubules then extend from the centrosomes at the spindle poles (ends) and reach the chromosomes. This is followed by metaphase.
- Philadelphia chromosome - (Philadelphia translocation) Genetic term referring to a chromosomal abnormality resulting from a reciprocal translocation between chromosome 9 and 22 (t(9;22)(q34;q11)). This is associated with the disease chronic myelogenous leukemia (CML).
- prophase - (Greek, pro = before) Cell division term referring to the first mitotic stage, when the diffusely stained chromatin resolves into discrete chromosomes, each consisting of two chromatids joined together at the centromere.
- telophase - Cell division term referring to the fifth mitotic stage, where the vesicles of the nuclear envelope reform around the daughter cells, the nucleoli reappear and the chromosomes unfold to allow gene expression to begin. This phase overlaps with cytokinesis, the division of the cell cytoplasm.
- trisomy mosaicism - a rare chromosome disorder characterized by having an extra copy of a chromosome in a proportion, but not all, of a person’s cells.
- uniparental disomy - Genetic term referring to cells containing both copies of a homologous pair of chromosomes from one parent and none from the other parent.
Cell Division Terms (expand to view) | ||
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meiosis | mitosis
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- Australia NHMRC - Genetics in Family Medicine: The Australian Handbook for General Practitioners Testing and pregnancy PDF (2007)
- Online Mendelian Inheritance in Man
- NHGRI Catalog of Published Genome-Wide Association Studies | PDF
- Genome-Wide Associations (GWA) Karyogram
- Idiogram Album David Adler
- NSW Centre for Genetics Education - Fact Sheets
- The BabySeq Project | Clinical Trials - "The BabySeq Project is a first-of-its-kind randomized clinical trial designed to examine how best to use genomics in clinical pediatric medicine by creating and safely testing methods for integrating sequencing into the care of newborns."
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Cite this page: Hill, M.A. (2024, April 23) Embryology Trisomy Mosaicism. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_Mosaicism
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