*  2q23.1 Microduplication Syndrome | 2q23.1 Deletion/Duplication Disorders
1-7 This article describes a new chromosome duplication syndrome, 2q23.1 duplication. This duplication includes the MBD5 gene, ... Article 1 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Sureni V ... This article describes a new chromosome duplication syndrome, 2q23.1 duplication. This duplication includes the MBD5 gene, the ... In this paper, 23 individuals with 2q23.1 duplications are described, establishing a new duplication syndrome. The observed ...
  https://2q23.org/661-2/
*  Chromosome 5q duplication syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Chromosome 5q duplication syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories ... Chromosome 5q duplication syndrome *What is Chromosome 5q duplication syndrome? *Causes of Chromosome 5q duplication syndrome * ... Symptoms of Chromosome 5q duplication syndrome *Signs of Chromosome 5q duplication syndrome *Treatments for Chromosome 5q ... Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which ...
  http://www.rightdiagnosis.com/c/chromosome_5q_duplication_syndrome/intro.htm
*  chromosome duplication - Posts
Find chromosome duplication information, treatments for chromosome duplication and chromosome duplication symptoms. ... MedHelp's chromosome duplication Center for Information, Symptoms, Resources, Treatments and Tools for chromosome duplication. ... Posts on chromosome duplication. duplication of7q21.13 {large 1.68 -1.73mb} and deletion of 6p25.1 {large 208.45 - 240.91kb} - ... my son has a duplication on his 3q29 chromosome does that mean he is mentally retarded as h... ...
  http://www.medhelp.org/tags/show/94456/chromosome-duplication?section=subjects
*  Control of chromosome duplication - Wikipedia
The ORC is a six subunit complex that binds DNA and provides a site on the chromosome where additional replication factors can ... Diffley, J.F (2008). "Regulation of Early Events in Chromosome Replication". Curr. Biol. 14 (18): R778-R786. doi:10.1016/j.cub. ... Replication is initiated at multiple origins of replication on multiple chromosomes simultaneously so that the duration of S ... Pflumm, M.F; Bochtan, M.R. (2001). "Orc mutants arrest in metaphase with abnormally condensed chromosomes". Development. 128 (9 ...
  https://en.wikipedia.org/wiki/Control_of_chromosome_duplication
*  Cases reported • Chromosome Duplication; Duplication, Chromosome
Duplication, Chromosome. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several ...
  https://lookfordiagnosis.com/cases.php?term=Chromosome+Duplication&lang=1
*  On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication | Science
On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ... On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ... On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ... On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ...
  http://science.sciencemag.org/content/135/3502/438
*  Chromosome 2q31.1 duplication syndrome gene - Wikipedia
Chromosome 2q31.1 duplication syndrome is a protein that in humans is encoded by the DUP2Q31.1 gene. "Human PubMed Reference ... "Entrez Gene: Chromosome 2q31.1 duplication syndrome". Retrieved 2016-07-25. Sandholm N, McKnight AJ, Salem RM, Brennan EP, ... "Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes". J. Am. Soc. Nephrol. 24 (10): 1537-43. doi:10.1681/ASN. ...
  https://en.wikipedia.org/wiki/Chromosome_2q31.1_duplication_syndrome_gene
*  Chromosome 2p Duplication
... Common Name(s). Chromosome 2p Duplication, Chromosome 2 Duplication Disease, Two Duplication ... Syndrome, 2 Duplication Syndrome, Chromosome Two Duplication Syndrome, Chromosome 2 Duplication, Chromosome Two Duplication ... "Chromosome 2p Duplication" (open studies are recruiting volunteers) and 0 "Chromosome 2p Duplication" studies with "all" status ... 2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. This ...
  http://diseaseinfosearch.org/Chromosome+2+Duplication/1504
*  Chromosome 9 Inversion or Duplication
... Common Name(s). Chromosome 9 Inversion or Duplication, Chromosome 9 inversion ... "Chromosome 9 Inversion or Duplication" (open studies are recruiting volunteers) and 0 "Chromosome 9 Inversion or Duplication" ... Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q ... The terms "Chromosome 9 Inversion or Duplication" returned 0 free, full-text research articles on human participants. ...
  http://diseaseinfosearch.org/Chromosome+9+inversion/1589
*  Evolution of Genes - Gene Duplication - Chromosome, Copies, and Called - JRank Articles
Duplication of much larger portions of a genome is also possible, including whole chromosomes (called chromosomal aberrations) ... Occasionally a gene on a single chromosome will be duplicated to create a pair of identical genes. Duplication may occur for ... Normal crossing over pairs up identical segments on homologous chromosomes, and then exchanges them. If the chromosomes each ... While gene duplication is a rare event in the short term, it is frequent enough in the long term to have been a central feature ...
  http://medicine.jrank.org/pages/2224/Evolution-Genes-Gene-Duplication.html
*  Duplication of chromosome 17 CEP predicts for anthracycline benefit: evidence from an international meta-analysis of 4 adjuvant...
Duplication of chromosome 17 CEP predicts for anthracycline benefit: evidence from an international meta-analysis of 4 adjuvant ... Duplication of chromosome 17 CEP predicts for anthracycline benefit: evidence from an international meta-analysis of 4 adjuvant ...
  http://wrap.warwick.ac.uk/5428/
*  Segmental Duplication on the Human Y Chromosome - Wikipedia
The segmental duplications are primarily consistent between the two genomes with the exception of chromosomes 1, 11, and 14 ... 8] This is the only region which does not show any homologies to segmental duplication of other chromosomes with more than 95% ... 2005). Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome. Genome Research,15(2), ... It is not known whether the duplications of the subtelomeric regions arise from other chromosomes like it is for the ...
  https://en.wikipedia.org/wiki/Segmental_Duplication_on_the_Human_Y_Chromosome
*  Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome | Genetics
Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome Message Subject (Your Name) has forwarded a page to you ... Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome. Tim Connallon and Andrew G. Clark ... Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome. Tim Connallon and Andrew G. Clark ... Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome. Tim Connallon and Andrew G. Clark ...
  http://www.genetics.org/content/186/1/277
*  Erlotinib for Chemoprevention in Trisomy 7 Positive Primary Sclerosing Cholangitis (PSC) - Full Text View - ClinicalTrials.gov
Chromosome Aberrations. Pathologic Processes. Chromosome Duplication. Erlotinib Hydrochloride. Antineoplastic Agents. Protein ... The EGFR gene is located on the short arm of chromosome 7 (7p12). Chromosomal abnormalities of the bile duct epithelium, ... particularly trisomy 7 (i.e. three copies of chromosome 7) can be detected in biliary epithelial samples obtained by endoscopic ...
  https://clinicaltrials.gov/ct2/show/NCT00955149?cond=%22Primary+sclerosing+cholangitis%22&rank=5
*  Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA - Full Text View - ClinicalTrials.gov
Chromosome Aberrations. Pathologic Processes. Chromosome Duplication. Intellectual Disability. Neurobehavioral Manifestations. ...
  https://clinicaltrials.gov/ct2/show/NCT01837979?term=
*  Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Fetal Cells - Full Text View - ClinicalTrials...
Chromosome Aberrations. Pathologic Processes. Chromosome Duplication. Intellectual Disability. Neurobehavioral Manifestations. ... The investigators then plan to test two strategies in order to assess the number of copies of chromosome 21. The first one ... At least 5-8 highly polymorphic STR markers specific for chromosome 21 will be tested to minimize the effects of a phenomenon ... of the metaphase CGH method to single cells isolated by ISET in which we were able to demonstrate the gain of chromosome 21 DNA ...
  https://clinicaltrials.gov/ct2/show/NCT01725438?recr=Open&intr=%22genetic+testing%22&rank=17
*  A New Prenatal Blood Test for Down Syndrome - Full Text View - ClinicalTrials.gov
Chromosome Disorders. Genetic Diseases, Inborn. Aneuploidy. Chromosome Aberrations. Chromosome Duplication. To Top ... pregnancies with an abnormal ultrasound highly suggestive of a chromosome abnormality (e.g., major heart defect, clenched fist ... fetal chromosome abnormalities, such as Down syndrome. ...
  https://clinicaltrials.gov/ct2/show/NCT00877292?term=
*  Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial - Full Text View - ClinicalTrials.gov
Chromosome Aberrations. Pathologic Processes. Chromosome Duplication. Intellectual Disability. Neurobehavioral Manifestations. ... Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y. [ Time Frame: ... The primary objective is to determine the diagnostic capability of the test to detect autosomal aneuploidy (chromosomes 13, 18 ...
  https://clinicaltrials.gov/ct2/show/NCT01545674
*  Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA - Full Text View...
Chromosome Disorders. Sex Chromosome Aberrations. Disease. Pathologic Processes. Aneuploidy. Chromosome Duplication. ... The primary purpose of this study is to collect family triads from families affected by a genetic or microdeletion/duplication ... Couples who have a child diagnosed with a sex chromosome abnormality (e.g. Turner syndrome, Klinefelter syndrome, Triple X ... Couples who have a child diagnosed with an autosomal chromosome abnormality (e.g. Down syndrome, Edwards syndrome, Patau ...
  https://clinicaltrials.gov/ct2/show/NCT02109770?term=NCT02109770&rank=1
*  Non-Invasive Determination of Fetal Chromosome Abnormalities - Full Text View - ClinicalTrials.gov
Chromosome Duplication. Disorders of Sex Development. Urogenital Abnormalities. Gonadal Disorders. Endocrine System Diseases. ... Chromosome Aberrations. Chromosome Disorders. Sex Chromosome Disorders of Sex Development. Sex Chromosome Disorders. Syndrome. ... Non-Invasive Determination of Fetal Chromosome Abnormalities. The safety and scientific validity of this study is the ... to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such ...
  https://clinicaltrials.gov/ct2/show/NCT00891852?cond=%22tetrasomy+18p%22+OR+%22Chromosomal+Disorder%22&rank=4
*  Genetics
Chromosome deletion. *Chromosome duplication. *Chromosome rearrangement syndromes. *Connective tissue disorders. *Hearing loss ... Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. ...
  https://www.childrens.com/specialties-services/specialty-centers-and-programs/genetics
*  More articles from YeastBook | Genetics
Chromosome Duplication in Saccharomyces cerevisiae Open Access. Stephen P. Bell, Karim Labib ... Chromosome Segregation in Budding Yeast: Sister Chromatid Cohesion and Related Mechanisms Open Access ...
  http://www.genetics.org/content/by/section/YeastBook
*  Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome |...
18 22q11.2 duplications (reciprocal to DiGeorge syndrome deletions),19 20 Xq28 duplications (MECP2 duplications, reciprocal to ... Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome ... Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome ... Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. Eur J Med Genet 2005;48:355 ...
  http://jmg.bmj.com/content/47/3/155
*  Ellis-Van Creveld syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
FAQs About Chromosome Disorders. *Medical and Science Glossaries. * Healthcare Professionals expand submenu for Healthcare ... Duplication of bones of the toes 0001829 Genu valgum. Knock knees 0002857 ...
  https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome