• Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. (bmj.com)
  • In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. (wikipedia.org)
  • As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. (wikipedia.org)
  • Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. (medlineplus.gov)
  • Affected people have two copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. (medlineplus.gov)
  • Less often, the swap is between chromosomes 22 and 21, or rarely, between 22 and another chromosome. (cancer.org)
  • The translocation moves a certain piece of chromosome 11 (or another chromosome) just next to the EWSR1 gene on chromosome 22, causing the EWSR1 gene to be turned on all the time. (cancer.org)
  • Karyotype was abnormal, with unbalanced 1q JTs to the short arms of acrocentric chromosomes 14 and 21, leading to gain of 1q. (biomedcentral.com)
  • Of particular biological significance, the short arms of acrocentric chromosomes contain the genes required for the synthesis of ribosomes and ribosomal RNA. (stowers.org)
  • Background Mosaicism for chromosomal structural abnormalities, other than marker or ring chromosomes, is rarely inherited. (elsevierpure.com)
  • Although JTs have been reported in neoplasms and constitutional chromosome abnormalities, they are rare chromosome rearrangements in neoplastic diseases. (biomedcentral.com)
  • Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
  • 3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
  • Chromosome 21 abnormalities can cause intellectual disability, delayed development, and characteristic facial features. (medlineplus.gov)
  • Few sex-autosome chromosome abnormalities have been documented in domestic animal species. (karger.com)
  • In humans, Y-autosome chromosome abnormalities may occur at a rate of 1/2,000 live births, whereas in the domestic pig only 2 Y-autosome reciprocal translocations have been previously described. (karger.com)
  • Because chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. (medicinenet.com)
  • Robertsonian translocations are the most common type of chromosomal fusion in the human population, occurring in one in 1,000 individuals, and contribute to infertility and genomic abnormalities like those that cause Down syndrome. (stowers.org)
  • We examined the intakes of these B vitamins and their food sources in relation to the frequency of chromosome translocations as a biomarker of cumulative DNA damage, in eighty-two male airline pilots. (cambridge.org)
  • In non-Robertsonian rearrangements, distribution of breakpoints among chromosomes was not as would be expected strictly on the basis of length. (nih.gov)
  • The breakpoints of deletions and translocations in the proximal chromosome 14q region were defined in nine patients, four of whom have not been reported previously. (nih.gov)
  • The aberrant chromosomes were isolated by flow cytometry and used to map the chromosome 14 deletion or translocation breakpoints. (nih.gov)
  • this rearrangement occurred due to the unbalanced chromosome segregation of the mother [t( 12;16)(q24;q24)mat]. (erdogan.edu.tr)
  • A genetic rearrangement (translocation) involving chromosome 21 is associated with a type of blood cancer known as core binding factor acute myeloid leukemia (CBF-AML). (medlineplus.gov)
  • Even a single heterozygous chromosomal rearrangement, such as a reciprocal translocation or chromosomal fusion, is expected to result in 50% reduction of fertility ( King, 1993 ). (frontiersin.org)
  • The Ph chromosome is the result of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. (genome.jp)
  • Methods We performed cytogenetics studies and breakpoint analyses on a family with transmission of mosaicism for a derivative chromosome 8 (der(8)), resulting from an unbalanced translocation between the long arms of chromosomes 8 and 21 over three generations. (elsevierpure.com)
  • Specific regions along the short arms of chromosomes 13, 14, 15, 21, and 22 are remarkably similar, indicating that recombination is occurring between chromosomes of mismatched pairs (for example, chromosomes 13 and 14 are exchanging information). (stowers.org)
  • In a very small percentage of cases, Down syndrome results from an extra copy of chromosome 21 in only some of the body's cells. (medlineplus.gov)
  • There is one normal copy of chromosome 21 (upper center) and one with a fusion (lower left). (stowers.org)
  • The following are some of the gene count estimates of human chromosome 13. (wikipedia.org)
  • The following is a partial list of genes on human chromosome 13. (wikipedia.org)
  • With the draft genomic sequence for human chromosome 14 available, gene searches were performed on selected intervals of the 14q11.2-q21 region to identify candidate genes for the observed phenotype in some of those affected. (nih.gov)
  • Furthermore, a compilation of other human chromosome 14q proximal deletion and translocation cases was obtained from a search on cytogenetic databases. (nih.gov)
  • Chromosome 21 is the smallest human chromosome, spanning about 48 million base pairs (the building blocks of DNA) and representing 1.5 to 2 percent of the total DNA in cells. (medlineplus.gov)
  • Chromosome 21 was the second human chromosome to be fully sequenced. (medlineplus.gov)
  • Daish, T. & Grützner, F. Evolution and meiotic organization of heteromorphic sex chromosomes. (nature.com)
  • Barasc H, Mary N, Letron R, Calgaro A, Dudez AM, et al: Y-autosome translocation Interferes with meiotic sex inactivation and expression of autosomal genes: a case study in the pig. (karger.com)
  • Here, we studied male meiotic chromosome behavior in four hybrid generations (F1-F4) between two chromosomal races of the Wood White butterfly Leptidea sinapis differentiated by at least 24 chromosomal fusions/fissions. (frontiersin.org)
  • We demonstrate that (i) F1 hybrids are highly heterozygous with nearly all chromosomes participating in the formation of trivalents at the first meiotic division, and (ii) that from F1 to F4 the number of trivalents decreases and the number of bivalents increases. (frontiersin.org)
  • The authors termed these "pseudohomologous" regions, to indicate that although they occur on different chromosomes, during meiotic recombination, they exchange sequences with other members of the acrocentric chromosome community as if they were homologs, or true pairs. (stowers.org)
  • The risk of a serious congenital anomaly was estimated to be 6.1% (n = 163) for de novo reciprocal translocations, 3.7% (n = 51) for Robertsonian translocations, and 9.4% (n = 32) for inversions. (nih.gov)
  • Fluorescent image of chromosomes (blue) and centromeres (cyan), illustrating a Robertsonian translocation between chromosomes 14 and 21 (red). (stowers.org)
  • Closeup fluorescent image of a Robertsonian fusion between chromosomes 14 and 21 (red). (stowers.org)
  • For the first time, analysis of assemblies from the Human Pangenome Reference Consortium reveals how and when specific translocations-a piece of one chromosome breaks off and attaches or fuses to another-called Robertsonian translocations, can form. (stowers.org)
  • The risk of abnormality for extra nonsatellited marker chromosomes was 14.7% (n = 68), and that for satellited marker chromosomes was 10.9% (n = 55). (nih.gov)
  • The genetic abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. (medicinenet.com)
  • By the early 1980's, ES and PNET were found to not only have similar features when examined under a microscope, but in greater than 95% of cases they also had an identical genetic abnormality called a translocation (Aurias 1984, Whang-Peng 1984, Burchill 2003). (sarcomahelp.org)
  • This case will enable us to explain the behavior of segregation Patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. (erdogan.edu.tr)
  • The molecular basis for this type of translocation had until now remained elusive. (stowers.org)
  • Chromosome 13 spans about 113 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells. (wikipedia.org)
  • Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • In 2000, researchers working on the Human Genome Project announced that they had determined the sequence of base pairs that make up this chromosome. (medlineplus.gov)
  • The 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes) between them house almost 3 billion base pairs of DNA that contain about 20,500 protein-coding genes. (medicinenet.com)
  • 22 pairs of chromosomes are the same in males and females. (kidshealth.org)
  • We normally have 23 pairs of chromosomes in each cell (one set of chromosomes comes from each parent). (cancer.org)
  • This process, called recombination, where pairs of homologous chromosomes-one paternal and one maternal-break, and equal segments are swapped, increases genetic diversity in offspring because the chromosomes at the end of meiosis differ both from the parent and from each other. (stowers.org)
  • In each human cell, the DNA is packaged in 23 pairs of chromosomes. (cancer.org)
  • Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). (wikipedia.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Conclusion Mosaicism in the proband, his half-sister and half-cousin resulting from loss of chromosome 21 material from the der(8) appears to be a postzygotic event due to the genomic instability of ITS and associated with selective growth advantage of normal cells. (elsevierpure.com)
  • If these structures are manipulated incorrectly, through processes known as chromosomal instability and translocation, the cell may undergo mitotic catastrophe . (wikipedia.org)
  • A questionnaire sent to major cytogenetics laboratories in the United States and Canada over a 10-year period collected data on the frequency and outcome of cases with either apparently balanced de novo rearrangements or de novo supernumerary marker chromosomes detected at amniocentesis. (nih.gov)
  • Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. (biomedcentral.com)
  • Jumping translocations (JTs) are chromosomal rearrangements comprising one donor chromosome and multiple recipient chromosomes [ 1 ]. (biomedcentral.com)
  • In 1% of cases, the extra chromosome 21 material originates from other rearrangements. (cdc.gov)
  • However, some species, especially plants and animals with holocentric chromosomes, are known to tolerate chromosomal heterozygosity even for multiple rearrangements. (frontiersin.org)
  • Unrepaired or incorrectly repaired DNA damage may lead to loss of heterozygosity, mutations, deletions, genomic rearrangements and chromosome loss. (cea.fr)
  • DISCUSSION: Although this is the largest cytogenetic study of male commercial airline pilots to date of which the authors are aware, future studies will need additional highly exposed pilots to better assess the translocation- cosmic radiation relation. (cdc.gov)
  • During a routine cytogenetic screening of young boars, we identified a new Y-autosome translocation carrier, which after puberty showed semen devoid of sperm and testicular hypoplasia with spermatogenesis arrest. (karger.com)
  • Alves C, Carvalho F, Cremades N, Sousa M, Barros A: Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. (karger.com)
  • Brisset S: Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report. (karger.com)
  • Two APL patients with simple variants of this translocation, t(3;15)(q21;q22) and t(X;15)(p11;q22), have previously been reported who lack cytogenetic involvement of chromosome 17, although their breakpoint positions on chromosome 15 still suggest the involvement of the PML gene. (lu.se)
  • Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. (bmj.com)
  • Partial trisomy 14q -- and parental translocation of No. 14 chromosome. (bmj.com)
  • Trisomy 13: Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. (wikipedia.org)
  • These cases are called translocation trisomy 13. (wikipedia.org)
  • Extra material from chromosome 13 disrupts the course of normal development, causing the characteristic signs and symptoms of trisomy 13. (wikipedia.org)
  • Down syndrome , also called trisomy 21, is a congenital disorder caused by the presence of an extra 21st chromosome. (medscape.com)
  • Trisomy 21, also known as Down syndrome, is a condition characterized by a distinctive pattern of minor and major anomalies associated with excess chromosome 21 material. (cdc.gov)
  • Translocation trisomy 21 (2% of cases) is often familial, and commonly involves chromosomes 14 and 21. (cdc.gov)
  • Trisomy 21 may be diagnosed through direct analysis of fetal chromosomes, by karyotype or DNA microarray, obtained from amniocentesis, chorionic villus sampling, or percutaneous umbilical blood sampling. (cdc.gov)
  • For example, Down syndrome (sometimes referred to as ' Down's syndrome ') or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. (medicinenet.com)
  • Translocations in peripheral blood lymphocytes were scored by using fluorescence in situ hybridisation whole-chromosome painting. (cambridge.org)
  • To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
  • METHODS: Translocations were scored using fluorescence in situ hybridization chromosome painting. (cdc.gov)
  • However, other mechanisms of disease causation have also been described where (1) a breakpoint disrupts or alters gene expression via a position effect 7 or (2) a cryptic deletion or duplication is identified at the translocation breakpoint. (bmj.com)
  • 18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
  • abstract = "In situ hybridization with a blotin-labeled DNA probe was used to detect wheatrye translocations. (illinois.edu)
  • Genome sequencing and transcriptome analysis of Trichoderma reesei QM9978 strain reveals a distal chromosome translocation to be responsible for loss of vib1 expression and loss of cellulase induction. (france-genomique.org)
  • A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
  • CML arises when two chromosomes - 9 and 22 - mistakenly exchange genetic material during cell division. (news-medical.net)
  • During meiosis, a type of cell division that gives rise to sperm and eggs, genetic material can be exchanged or swapped between two paired chromosomes. (stowers.org)
  • We argue that the observed process of chromosome sorting would, if continued, result in a new homozygous chromosomal race, i.e., in a new karyotype with intermediate chromosome number and, possibly, in a new incipient homoploid hybrid species. (frontiersin.org)
  • In eukaryotes, the number and rough organization of chromosomes is well preserved within isolates of the same species. (wellnessresources.com)
  • DSBs are first detected and signaled by the DNA damage checkpoint that triggers cell cycle arrest, providing time for the cell to repair damaged chromosomes before entering mitosis. (cea.fr)
  • Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation: Reciprocal translocation carriers have reduced fertility. (erdogan.edu.tr)
  • Here, we report the inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation. (erdogan.edu.tr)
  • Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Cukurova university hospital in Turkey We assessed I family 7111 Which the translocation between chromosomes 12 and 16 segregates one of the eight progenies with the karvotype 47,XY,+21,t(12;16)(q24;q24) was heterozygote for the translocation and presented with Down syndrome. (erdogan.edu.tr)
  • and chromosome 21, translocation 21 syndrome. (medscape.com)
  • Affected individuals with this genetic change are said to have translocation Down syndrome. (medlineplus.gov)
  • Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition. (medlineplus.gov)
  • Subsequently, these two tumors have been grouped into a class of cancers entitled Ewing's Sarcoma Family of Tumor (ESFT), all of which demonstrate this translocation. (sarcomahelp.org)
  • Researchers have found chromosome changes that lead to Ewing tumors, but these changes are not inherited. (cancer.org)
  • In a very small portion of Ewing tumors, the cells have translocations that involve the FUS gene (on chromosome 16) instead of the EWSR1 gene. (cancer.org)
  • Lab tests can be used to find chromosome translocations in Ewing tumor cells (see Tests for Ewing Tumors ). (cancer.org)
  • Chromosome translocations and cosmic radiation dose in male U.S. commercial airline pilots. (cdc.gov)
  • We examined the relation between the frequency of translocations and cosmic radiation dose in 83 male airline pilots. (cdc.gov)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 21. (medlineplus.gov)
  • [4] Before this happens, each chromosome is duplicated ( S phase ), and both copies are joined by a centromere , resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)
  • Instead of mutations occurring in individual genes, this yeast can mutate by reorganizing their chromosomes and make extra copies of large chromosome pieces. (wellnessresources.com)
  • Furthermore, interstitial telomeric sequences (ITS) were identified in the juncture between chromosomes 8 and 21 in the der(8). (elsevierpure.com)
  • Fusion of the break-off donor chromosome segment to telomeric or interstitial regions of recipient chromosomes can form different chromosomal patterns of jumping translocations. (biomedcentral.com)
  • A long and difficult waiting period of 1.5 years eventually brought news of her diagnosis: chromosome translocation 17 & 2. (mrds.org.my)
  • If doctors aren't sure if a tumor belongs to the Ewing family, they can use these tests on tumor samples to look for translocations and confirm the diagnosis. (cancer.org)
  • Apparently, this yeast can generate a new chromosome by duplication of chromosome segments carrying a centromere and subsequently adding novel telomeric ends. (wellnessresources.com)
  • In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
  • Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). (wikipedia.org)
  • Rare Chromosome Disorder Support Group. (rarechromo.org)
  • Abnormal karyotype - approximately 95% of cases result from chromosomal non-disjunction of chromosome 21 (47,XX,+21 or 47,XY,+21) at conception. (cdc.gov)
  • The translocation creates a new, fused gene (called BCR-ABL), that produces a cancer-causing enzyme called Bcr-Abl. (news-medical.net)
  • Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers. (uniklinikum-dresden.de)
  • 22) reciprocal translocation that forms the Philadelphia (Ph) chromosome. (genome.jp)
  • The treatment regimen for patients with ALL is determined primarily by the Philadelphia chromosome status of the leukemia and the age of the patient. (medscape.com)
  • Patients with Philadelphia chromosome-positive (Ph+) ALL receive a tyrosine kinase inhibitor (TKI) in combination with chemotherapy. (medscape.com)
  • Changes involving chromosome 21 can include a missing segment of the chromosome in each cell (partial monosomy 21) and a circular structure called ring chromosome 21. (medlineplus.gov)
  • Chromosomes are the cellular storage units for genes contained within the nucleus (which is the genetic center) of the cell and are analogous to a spool with the DNA or genetic message being the thread on the spool. (sarcomahelp.org)
  • They are packaged in chromosomes , which are long strands of DNA in each cell. (cancer.org)
  • Reciprocal translocation heterozygosity. (karger.com)
  • Deciphering these relationships entails field work, growing representative populations in a garden or greenhouse, experimental hybridizations among selected populations, and the study of chromosomes in the parental plants and in the artificial hybrids. (scu.edu)
  • A female patient with non-syndromic mental retardation was shown by high resolution GTL banding to have inherited an apparently balanced translocation, 46,X,t(X;8)(q28;q12)mat. (bmj.com)
  • We have investigated a female patient with non-syndromic mental retardation who has inherited an apparently balanced X;autosome translocation, 46,X,t(X;8)(q28;q12)mat. (bmj.com)
  • We observed a significant inverse association between translocation frequency and dietary intake of niacin ( P = 0·02): adjusted rate ratio for subjects in the highest tertile compared with the lowest tertile was 0·58 (95 % CI 0·40, 0·83). (cambridge.org)
  • No association was observed between translocation frequency and absorbed dose from all types of flying [rate ratio (RR) = 1.01 at 1 mGy, 95% confidence interval (CI) 0.97-1.04]. (cdc.gov)
  • The evolutionary dynamics of sex chromosomes suggest a mechanism for 'inheritance' turnover of sex-determining genes that is mediated by translocation of a sex-determining enhancer. (nature.com)
  • X-linked inheritance, in which the defective gene is present on the female, or X-chromosome. (medicinenet.com)
  • Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
  • Aided by the rediscovery at the start of the 1900s of Gregor Mendel 's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. (wikipedia.org)
  • Diseases may also occur because of chromosomal translocation in which portions of two chromosomes are exchanged. (medicinenet.com)
  • A 190-kb mitochondrial DNA sequence interrupted by seven foreign DNA segments was identified in rice chromosome 12. (ijbs.com)
  • JTs are characterized by translocations of one donor chromosome to various recipient chromosomes, resulting in several gains of this chromosomal segment and possible loss of segments of the recipient chromosomes [ 1 , 2 ]. (biomedcentral.com)
  • The fusion protein produced from the t(8;21) translocation, called RUNX1-ETO, retains some functions of the two individual proteins. (medlineplus.gov)