|
| |
| | Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation -- Page et al. 5 (9): ... |
 | | The most common translocations in humans are whole arm exchanges between acrocentric chromosomes, termed Robertsonian translocations, which have an incidence of approximately 1/1000 individuals (1). | | | A mechanism such as this would be capable of forming any Robertsonian translocation, and could be responsible for the two rob(13q14q) reported with breakpoints that do not correspond with the usual locations (this study, ref. 44). | | | In contrast, several less common Robertsonian translocations were found to be monocentric or to have retained rDNA (this study, refs 38,41). |
|
http://hmg.oxfordjournals.org/cgi/content/full/5/9/1279
(6472 words)
|
|
| |
| | Eastern Mediterranean Health Journal |
| | In familial Robertsonian translocation Down syndrome one of the parents (almost always the mother) is a translocation heterozygote and has transmitted the translocation in an unbalanced state to the offspring. | | | Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. | | | have studied families in which a child with trisomy 21 also had a balanced translocation, and while in some cases the translocation could be of paternal origin, the extra chromosome 21 came from the mother. |
|
http://www.emro.who.int/Publications/EMHJ/0901_2/cytogenetic.htm
(2659 words)
|
|
| |
| | Case Study 4 Mom |
| | Robertsonian translocations are present in approximately 1/1,000 newborns. | | | Chromosome analysis of the newborn revealed Trisomy 13 secondary to a Robertsonian translocation. | | | Genetic counseling of this patient and her husband was recommended to explain why their daughter had trisomy 13, what the recurrance rish was for future pregnancies, and to determine if other family members were carriers and also at risk. |
|
http://www.hcmc.org/a_z/EdSessions/CYGcasestudies/DisCase4Mom.html
(282 words)
|
|
| |
| | ABNORMALITIES IN CHROMOSOME STRUCTURE |
| | Theoretically, a person who carries a 14;21 translocation has a 1/3 chance of having a normal child, a 1/3 chance of having a child who carries a balanced translocation, and a 1/3 chance of having a child with Down syndrome. | | | It may seem surprising that the risk is not much greater. | | | Of all the structural chromosome rearrangements, the most clinically significant is a translocation. |
|
http://www.usd.edu/med/som/genetics/curriculum/1ECHROM3.htm
(1824 words)
|
|
| |
| | Down Syndrome:Types of Down Syndrome |
| | A carrier parent can have a chromosomally normal child, or a child who is a balanced carrier like the parent, or a DS child. | | | Karyotypes with a Robertsonian translocation can be balanced or unbalanced. | | | There are Robertsonian translocations between 13 and 21; 15 and 21; and 21 and 22. |
|
http://www.nas.com/downsyn/benke.html
(1703 words)
|
|
| |
| | Introduction to Chromosomes Chromosome Deletion Outreach, Inc. |
| | This individual has all the material needed, just switched around (translocated), so they should have no health problems, because it is 'balanced'. | | | Above is an example of a balanced translocation. | | | However there can be a problem when this person has children. |
|
http://www.chromodisorder.org/intro.htm
(2170 words)
|
|
| |
| | Reprogenetics: Everything associated with PGD: preimplantation genetic diagnosis - pgd |
| | In addition, the referring center should have IRB approval following our specifications for this still experimental procedure. | | | Sperm analysis of translocation segregation prior to PGD (500 sperm) | | | For any reciprocal translocation or pericentric inversion a non-refundable deposit of 1250$ will be charged prior to the case for probe testing and PGD counseling (T-PREP). |
|
http://www.reprogenetics.com/referivf_price.htm
(185 words)
|
|
| |
| | Chromosomal translocation - Wikipedia, the free encyclopedia |
| | Cancer - several forms of cancer are caused by translocations; this has been described mainly in leukemia (acute myelogenous leukemia and chronic myelogenous leukemia). | | | The most common translocation involves chromosomes 13 and 14 is seen in about 1 in 1300 persons, making it the most common chromosome rearrangement in humans. | | | Such translocations are usually harmless and may be found through prenatal diagnosis. |
|
http://en.wikipedia.org/wiki/Chromosomal_translocation
(365 words)
|
|
| |
| | Robertsonian translocation - Wikipedia, the free encyclopedia |
| | One in 900 humans is born with a Robertsonian translocation. | | | The most frequent forms of Robertsonian translocations are between chromosomes 13 and 14, 13 and 21, and 21 and 22, and occur when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost. | | | Robertsonian translocations are a common form of chromosomal rearrangement that occurs in the five acrocentric human chromosome pairs, namely 13, 14, 15, 21, and 22. |
|
http://en.wikipedia.org/wiki/Robertsonian_translocation
(537 words)
|
|
| |
| | RBM Online - Negligible interchromosomal effect in embryos of Robertsonian translocation carriers |
| | Two groups of PGD patients were compared, Robertsonian translocation carriers (RBT) and non-translocation patients (XLI), of similar age. | | | One type of translocation carriers was specifically studied, those with Robertsonian translocations, which are characterized by whole arm interchange of material between chromosomes 13, 14, 15, 21 or 22. | | | Both groups had their embryos analysed by preimplantation genetic diagnosis (PGD), a technique that removes one cell of each embryo for analysis, and if the embryo is normal it is transferred to the future mother. |
|
http://www.rbmonline.com/4DCGI/Article/Lay_Summary?38%091%09=+1630%09
(336 words)
|
|
| |
| | Translocations - Children's Hospital of Philadelphia |
| | The term "translocation" is used when the location of specific chromosome material changes. | | | A person carrying this type of translocation is healthy, but would have an increased risk of having a baby with Down syndrome. | | | The translocation in this example is between chromosomes #14 and 21. |
|
http://www.chop.edu/consumer/your_child/condition_section_index.jsp?id=-8549
(165 words)
|
|
| |
| | ASM 15(4); Case Report: Robertsonian Translocation |
| | Genetic counseling in these situations is difficult because normal children from affected parents have not been reported. | | | Chromosomal analyses had not been done on any of the aborted fetuses which had all occurred prior to the cytogenetic analysis of the mother. | | | Molecular identification of the break points indicated that there is a certain incidence of partial deletion in the formation of these fused chromosomes. |
|
http://www.kfshrc.edu.sa/annals/154/94146/94146.html
(948 words)
|
|
| |
| | PAG-X: MOLECULAR CHARACTERIZATION OF CENTROMERES OF WHEAT-BARLEY ROBERTSONIAN TRANSLOCATION CHROMOSOMES |
| | Many of such wheat-barley translocations were Robertsonian translocations arisen from centric fusion. | | | These molecular cytological analyses revealed which barley chromosome arm is involved in the Robertsonian translocations and which centromere, barley one or wheat one, they have. | | | Some of the wheat-barley Robertsonian translocations (11 translocations involving 4H and 21 translocations involving 7H) were examined by C-banding and genomic in situ hybridization. |
|
http://www.intl-pag.org/10/abstracts/PAGX_W248.html
(239 words)
|
|
| |
| | Rb(6.15)1Ald - Robertsonian translocation, Chr 6 and 15, Adler 1 |
| | Oocyte numbers and synaptonemal complexes were studied in two Robertsonian translocations, Rb(6.15)1Ald and Rb(4.6)2Bnr, and their male-sterile compound. | | | The essential role of the Spam1 sperm antigen in mouse sperm-egg interactions and its gene location provide strong support for its candidacy as the gene involved in the dysfunction of mouse sperm bearing the Rb(6.16)24Lub or Rb(6.15)1Ald translocation. | | | The mouse Spam1 maps to proximal chromosome 6 and is a candidate for the sperm dysfunction in Rb(6.16)24Lub and Rb(6.15)1Ald heterozygotes. |
|
http://www.ihop-net.org/UniPub/iHOP/gi/124138.html
(150 words)
|
|
| |
| | The frequency of aneuploidy in the secondary spermatocytes of normal and Robertsonian translocation-carrying rams -- ... |
| | This coincides with mating data which suggest that 26,x,t2 gametes may occur less frequently than expected. | | | The frequency of aneuploidy in the secondary spermatocytes of normal and Robertsonian translocation-carrying rams | | | Since ewes of normal karotype mated to 53,xy,t rams conceive to first service at a rate equal to or better than normal mating groups, and because no blastocysts with unbalanced karotypes associated with the t1 translocation have been recorded, it is suggested that only euploid spermatozoa are involved in fertilization. |
|
http://www.reproduction-online.org/cgi/content/abstract/45/2/333
(291 words)
|
|
| |
| | Molecular Cytogenetics Publications - Pat Heslop-Harrison & Trude |
| | Chromosomal variation in Crocus vernus Hill (Iridaceae) investigated by in situ hybridization of rDNA and a tandemly repeated sequence. | | | Physical mapping of translocation breakpoints in a set of wheat- Aegilops umbellulata recombinant lines using in situ hybridization. | | | Molecular cytogenetic analysis and centromeric satellite organization of a novel 8;11 translocation in sheep: A possible intermediate in biarmed chromosome evolution. |
|
http://www.le.ac.uk/biology/phh4/titles.htm
(4278 words)
|
|
| |
| | Biostatistique - Recherche |
| | F. Gary, D. Concordet, H.M. Berland, X. Berthelot, R. Darre, Does the 1/29 robertsonian translocation affect the fertility of blonde d’aquitaine bulls ?, Theriogenology 36 (1991), no. 3, 419-425. | | | F. Gary, D. Concordet, H.M. Berland, X. Berthelot, R. Darre, 1/29 robertsonian translocation in blonde d’aquitaine bulls : frequency and effects on semen characteristics., Genet. |
|
http://www.biostat.envt.fr/spip/rubrique.php3?id_rubrique=1
(1236 words)
|
|
|
