Factbites
 Where results make sense
About us   |   Why use us?   |   Reviews   |   PR   |   Contact us  

Topic: Chromosome 15q trisomy


Related Topics

  
  chromosome - Hutchinson encyclopedia article about chromosome   (Site not responding. Last check: 2007-11-03)
A chromosome is a threadlike structure of nucleic acids and protein, carrying a set of linked genes, and (in the case of humans and most other higher organisms) paired with an identical copy.
These are the sex chromosomes – a short, male determining one called the Y chromosome and the X chromosome.
It is one of the smallest human chromosomes, and has been linked to a number of disorders, including schizophrenia and trisomy 22 (a common cause of miscarriage).
encyclopedia.farlex.com /chromosome   (477 words)

  
 Chromosome 4, Trisomy 4p
Chromosome 4, Trisomy 4p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 4 appears three times (trisomy) rather than twice in cells of the body.
Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of a balanced translocation or other chromosomal rearrangement involving chromosome 4 in one of the parents.
Trisomy for the short arm of chromosome 4 was originally described in 1970 (Wilson MG) and delineated as a distinct clinical syndrome in 1977 (Gonzalez CH).
hw.healthdialog.com /kbase/nord/nord995.htm   (2224 words)

  
 Chromosome 15, Distal Trisomy 15q
Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 15th chromosome (15q) appears three times (trisomy) rather than twice in cells of the body.
Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 15th chromosome appears three times (trisomy) rather than twice in cells of the body.
Trisomy of the distal 15q region due to familial balanced translocation t(15;16) (q24;p13) and unusual mosaicism in the mother of the proband.
hw.healthdialog.com /kbase/nord/nord1101.htm   (2419 words)

  
 ABNORMALITIES IN CHROMOSOME STRUCTURE
Individuals and families have been described with a translocation chromosome abnormality and a concurrent genetic condition; the genetic condition occurring because the chromosome breakpoint is in the midst of a gene.
The chromosomes are distributed to the daughter cells by the centromeres which are attached to spindle fibers.
In contradistinction, a numerical chromosome abnormality in a child is presumed to be due to a sporadic cell division error and parental chromosome studies are not indicated.
www.usd.edu /med/som/genetics/curriculum/1ECHROM3.htm   (1824 words)

  
 MoSt GeNe/Genetic Drift/Nontraditional Inheritance/Uniparental Disomy and Genomic Imprinting
The two maternally-derived 15 chromosomes may be the same (the result of duplication of one 15, called isodisomy), different (the result of inheritance of the two different maternal 15s, called heterodisomv), or, most commonly, a combination of the two maternal chromosomes due to recombination.
Specifically, there have been case reports of trisomy 15 found on chorionic villus sampling at 10"-1"1 weeks gestation, followed by amniocentesis at 16"-1"8 weeks documenting a viable fetus with two 15 chromosomes, and the resulting child having Prader-Willi syndrome on the basis of maternal uniparental disomy.
Uniparental maternal disomy for chromosome 15 is thought to cause Prader-Willi syndrome because there is absence of needed paternally contributed genes in the critical PWS region (del 15q11-q13).
www.mostgene.org /gd/gdvol10c.htm   (1292 words)

  
 Indian Pediatrics - Editorial   (Site not responding. Last check: 2007-11-03)
Structural chromosomal defects originating from a balanced translocation in either parents are often responsible for mental retardation and/or congenital malformations.
In two patients, the 15q trisomy was of post zygotic origin(7,8) and in one case the duplication was due to pericentric inversion.
The present report is the first case of 15q22 trisomy due to reciprocal translocation between chromosomes 10 and 15 involving breakpoints q26 and q22 respectively, and also this is the first reported case of 15q trisomy from the Indian population.
www.indianpediatrics.net /nov2002/nov-1050-1054.htm   (1073 words)

  
 Eastern Mediterranean Health Journal
The most frequent chromosomal abnormality associated with autism is fragile X syndrome in that 2%–5% of autistic children also have fragile X syndrome.
Autism and maternally derived aberrations of chromosome 15q.
Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.
www.emro.who.int /Publications/EMHJ/0703/Autism.htm   (2473 words)

  
 A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q -- ...
A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q -- WHITEFORD et al.
A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q
Paracentric inversion of chromosome 18 with duplication of the inverted material in a child due to a maternal paracentric inversion of 18q.
jmg.bmjjournals.com /cgi/content/full/37/8/e11   (1161 words)

  
 Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination -- ...
Non-disjoined chromosomes 15 from 115 cases of uniparental disomy (ascertained through Prader-Willi syndrome) and 13 cases of trisomy of maternal origin were densely typed for microsatellite loci spanning chromosome 15q.
In contrast, trisomy 18 is mostly associated with maternal meiosis II (MII) errors (5) and paternal errors account for about half the cases of trisomy 2 (T.J. Hassold and W.P. Robinson, unpublished data), as well as XXY (6).
For trisomy 21 multiple transitions were observed in only 7% of cases (from Table 1 in ref. 20), as compared with 44% of the chromosome 15 cases.
hmg.oxfordjournals.org /cgi/content/full/7/6/1011   (6502 words)

  
 Trisomy, Monosomy, Ring Chromosome 20p and Genetic Imprinting
Trisomy, or partial trisomy, of chromosome 20 is not that rare.
To characterize the breakpoints further and to determine the centromeric origin of the chromosomes involved, we analyzed the metaphase chromosomes by fluorescence in situ hybridization using alpha-satellite DNA probes specific to chromosomes 18 and 20.
A patient with triplication of all of chromosome arm 20p is presented to illustrate the relatively modest degree of developmental delay that can result from autosomal triplication and the role of nondisjunction as a mechanism for deriving a partial triplication status.
www.mad-cow.org /chr20_rings_trisomy.html   (4116 words)

  
 [No title]
If a chromosome or piece of a chromosome is missing or duplicated, there are missing or extra genes respectively.
Following the removal of the array-, pin- and dye-specific effects [40,41], the estimated relative abundance values were ordered according to the position of a corresponding gene on the chromosome and subjected to spectral analysis.
The human MEST gene is imprinted in fetal tissues and localised to chromosome 7q32.2.
www.lycos.com /info/chromosome--individuals.html   (425 words)

  
 Encyclopedia Search
Most trisomies result in a number of birth defects (which are often...
21 is the existence of the third copy of the chromosome 21 in cells...
21 Ultimately caused by an extra chromosome in the genetic makeup of...include
www.encyclopedian.com /search.php?searWords=Trisomy   (164 words)

  
 Medical Dictionary: Chromosome 15q, trisomy - WrongDiagnosis.com
Chromosome 15q, trisomy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Chromosome 15q, trisomy, or a subtype of Chromosome 15q, trisomy, affects less than 200,000 people in the US population.
Terms that may be interchangeable with Chromosome 15q, trisomy:
www.wrongdiagnosis.com /medical/chromosome_15q_trisomy.htm   (221 words)

  
 Medical Dictionary: Trisomy 15q - WrongDiagnosis.com
Trisomy 15q is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Trisomy 15q, or a subtype of Trisomy 15q, affects less than 200,000 people in the US population.
Terms that may be interchangeable with Trisomy 15q:
www.wrongdiagnosis.com /medical/trisomy_15q.htm   (243 words)

  
 Distal duplication 15q syndrome - Printer Friendly Page - Rare Diseases - Information Centre for Rare Diseases and ...   (Site not responding. Last check: 2007-11-03)
Chromosome 15q trisomy is an extremely rare genetic disorder, caused by a chromosomal aberration in which there is an excess copy of the long ("q") arm of human chromosome 15.
The disorder is also known as Distal Duplication 15q and Partial Duplication 15q Syndrome.
Interstitial duplications of chromosome 15 are clearly identifiable using a 15q FISH test.
www.raredis.org /modules/news/print.php?storyid=166   (168 words)

  
 eMedicine - Congenital Diaphragmatic Hernia : Article by Robin H Steinhorn, MD   (Site not responding. Last check: 2007-11-03)
Chromosome abnormalities have been reported in as many as 30% of infants with CDH, which has been described as part of trisomy 13, trisomy 18, trisomy 21, and Turner syndrome (monosomy X).
Deletions of chromosomes 8p and 15q appear to be associated with heart malformations.
Chromosome studies: Obtain chromosome studies because of the frequent association with chromosomal anomalies.
www.emedicine.com /ped/topic2603.htm   (5544 words)

  
 Specialty Laboratories ::: we help doctors help patients
True trisomy 15 mosaicism is associated with cardiac anomalies, short neck and/or excess nuchal skin and webbed neck Trisomy 15 mosaicism also has been reported with no major or visible dysmorphia and severe inner organ defect.
The trisomy can result from a malsegregation of a parental translocation, or can occur de novo with the presence of a supernumerary acrocentric chromosome of the size of a G-group chromosome or a supernumerary chromosome carrying satellites at both extremities.
Clinical correlation of molecular 15q deletions and maternal disomy for chromosome 15 in Prader-Willi.
www.specialtylabs.com /books/display.asp?id=1182   (710 words)

  
 Articles and Information Chromosome Deletion Outreach, Inc. (CDO) Rare Chromosome Disorder Support and Information   (Site not responding. Last check: 2007-11-03)
Chromosome 15q terminal deletion Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15.
Chromosome 17q duplication Clinical characteristics associated with dup 17 (q24q25.1) in a mosaic mother and two non-mosaic daughters, Clinical Dysmorphology.
Chromosome 18 duplication Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18) dup (18q) inv (18)(p11.31q11.2) mat, Prenatal Diagnosis, 2000
members.aol.com /sorgl/update2.htm   (2667 words)

  
 Chromosome Disorders / Family Village
CDO has a mission to provide support to parents of children born with rare chromosome disorders, gather together and share information, and to promote research and a positive community understanding of these disorders.
The National Center For Chromosome Inversions is a non-profit corporation that acts as a information clearing house for patients and their families, that have been diagnosed with a chromosome inversion of any kind.
This is a group for those interested in chromosome anomalies involving the three biggest chromosomes, chromosomes 1, 2 or 3.
www.familyvillage.wisc.edu /lib_chro.htm   (921 words)

  
 Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL) - Nature Medicine
One chromosome 21 homolog is missing, however analysis of 10 further cells showed that this was not a clonal abnormality.
The ability to survey all chromosome telomeres in only two hybridizations is an important advantage for many clinical diagnostic situations; for example, in situations where the mitotic index is low or there are clonal populations of abnormal cells (such as leukemic bone marrow) or where the sample is small (such as blood samples from infants).
In hematological malignancies, the identification of new, non-random chromosome rearrangements is expected to identify new regions and genes involved in the leukemogenic process.
www.nature.com /nm/journal/v7/n4/full/nm0401_497.html   (3217 words)

  
 Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning ...
Maternal uniparental disomy for chromosome 15 [upd(15)mat] is
Milunsky, J.M., Wyandt, H.E., Huang, X.L., Kang, X.Z., Elias, E.R. and Milunsky, A. (1996) Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant.
Choi, J.D., Underkoffler, L.A., Collins, J.N., Marchegiani, S.M., Terry, N.A., Beechey, C.V. and Oakey, R.J. (2001) Microarray expression profiling of tissues from mice with uniparental duplications of chromosomes 7 and 11 to identify imprinted genes.
hmg.oxfordjournals.org /cgi/content/full/12/20/2723   (4680 words)

  
 Chromosome Walking | Research, News, Information and Resources | GeneticsInfo.com
Using Tn917 mutagenesis and subsequent chromosome walking steps, we have identified a gene cluster immediately downstream of sagA that we propose is required for the processing and transport of SAG-A...
Chromosome walking in the vicinity of the identified marker was difficult using available phage and cosmid genomic libraries.
Chromosome walking, one strategy for filling in gaps, involves hybridizing a primer of known sequence to a clone from an unordered genomic library and synthesizing a short complementary strand...
www.geneticsinfo.com /chromosomes/chromosomewalking   (1843 words)

  
 Handbook of Chromosomal Syndromes, G. Shashidhar Pai, Raymond C. Lewandowski, Jr., Digamber S. Borgaonkar - ISBN ...
In the past, medical researchers and practicing clinicians have lacked a single, comprehensive resource on chromosome disorders, the cause of a wide variety of growth abnormalities and miscarriages.
As new syndromes are being defined and known syndromes better described, patients with chromosomal abnormalities and their families are making greater demands on professionals for more extensive information.
Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook of Chromosomal Syndromes is the most up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities.
www.elx.com.au /item/047137217X   (273 words)

  
 Cloverleaf skull anomaly and de novo trisomy 4p -- DE BRASI et al. 36 (5): 422 -- Journal of Medical Genetics
Standard R banding of the patient's chromosomes disclosed the presence of supernumerary chromosomal bands on 2q.
Figure 2 FISH performed in the patient using chromosome 4 painting library: arrowhead indicates part of chromosome 4 translocated onto chromosome 2 (left).
Craniosynostosis associated with partial duplication of 15q and deletion of 2q.
jmg.bmj.com /cgi/content/full/36/5/422   (997 words)

  
 Trisomy 15 rescue with jumping translocation of distal 15q in Prader- Willi syndrome -- Devriendt et al. 34 (5): 395 -- ...
Trisomy 15 rescue with jumping translocation of distal 15q in Prader- Willi syndrome -- Devriendt et al.
Trisomy 15 rescue with jumping translocation of distal 15q in Prader- Willi syndrome
The translocated distal 15q fragment was of paternal origin
jmg.bmjjournals.com /cgi/content/abstract/34/5/395   (269 words)

  
 Directly transmitted unbalanced chromosome abnormalities and euchromatic variants -- Barber 42 (8): 609 -- Journal of ...
Chromosomes 5, 8, and 18 were the most frequently involved.
1p are associated with a recognisable chromosomal syndrome.
Identification of a C6/G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down’s syndrome, with possible assignment of Gm locus.
jmg.bmj.com /cgi/content/full/42/8/609   (8519 words)

  
 Additional Complexity on Human Chromosome 15q: Identification of a Set of Newly Recognized Duplicons (LCR15) on ...
The long arm of human chromosome 15 is characterized by the relatively frequent appearance of cytogenetic alterations.
The markers and regions containing sequence similarities with other chromosomes or chromosome 15q regions are shown.
24 mya, chromosomes 6 and 15 sequences 38 mya, and chromosomes
www.genome.org /cgi/content/full/11/1/98   (7568 words)

  
 List of Albums - Photos of Children Living with Trisomy 13
From cleft lips to contagious smiles, this Trisomy 13 group of families are here to offer you support as you begin your trisomy journey.
We believe Lynne is the Oldest Partial Trisomy 13 at present.
Treasured Memories Album for families who embraced life and have loved and lost their precious Trisomy 13 child.
livingwithtrisomy13.org /trisomy-13.htm   (425 words)

Try your search on: Qwika (all wikis)

Factbites
  About us   |   Why use us?   |   Reviews   |   Press   |   Contact us  
Copyright © 2005-2007 www.factbites.com Usage implies agreement with terms.