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Topic: Monosomy


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In the News (Thu 17 Dec 09)

  
  Aneuploidy - Wikipedia, the free encyclopedia
Monosomy is the presence of only one chromosome from a pair in a cell's nucleus.
Partial monosomy occurs when the long or short arm of a chromosome is missing.
A disomy is the presence of a pair of chromosomes.
en.wikipedia.org /wiki/Monosomy   (478 words)

  
 Chromosome 8, Monosomy 8p2
Chromosome 8, Monosomy 8p2 is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome.
Monosomy 8p2 may also be characterized by delays in the acquisition of skills that require the coordination of mental and motor activities (psychomotor retardation).
Monosomy 8p2 is also typically characterized by craniofacial malformations that may be relatively subtle in some cases.
hw.healthdialog.com /kbase/nord/nord1032.htm   (2461 words)

  
 Chromosome 7, Partial Monosomy 7p
Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the short arm (p) of chromosome 7 (7p).
Partial Monosomy 7p may also be characterized by additional physical features, such as growth deficiency, musculoskeletal abnormalities, genital defects, structural malformations of the heart that are present at birth (congenital heart defects), and/or other abnormalities.
Partial Monosomy 7p is also commonly characterized by premature closure of one or more fibrous joints (cranial sutures) between particular bones in the skull (craniosynostosis), potentially resulting in deformity of the skull and an unusually shaped head.
hw.healthdialog.com /kbase/nord/nord1026.htm   (2236 words)

  
 Identification of monosomy 3 in choroidal melanoma by chromosome in situ hybridisation -- Sandinha et al. 88 (12): 1527 ...
Identification of monosomy 3 in choroidal melanoma by chromosome in situ hybridisation -- Sandinha et al.
Identification of monosomy 3 in choroidal melanoma by chromosome in situ hybridisation
Monosomy 3 was detected in 15 of the 26 cases of metastasising
bjo.bmjjournals.com /cgi/content/abstract/88/12/1527   (294 words)

  
 Monosomy 1p36 -- Slavotinek et al. 36 (9): 657 -- Journal of Medical Genetics
of typical patients with 1p36 monosomy are shown in fig 1.
Cardiomegaly was observed in a patient with monosomy for 1p36-1pter and trisomy for 9p12-9pter.
Reish O, Berry SA, Hirsch B. Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome.
jmg.bmjjournals.com /cgi/content/full/36/9/657   (3534 words)

  
 Monosomy 21 mosaicism   (Site not responding. Last check: 2007-11-05)
As many of the reports were from the late 1970's or early 1980's when banding techniques were not generally of as high quality as is currently possible, it may be that some of the reports were not in fact true monosomy 21 (i.e.
In the former case, monosomy 21 was prenatally diagnosed in chorionic villi using fluorescent in situ hybridization (FISH), while in the latter, monosomy 21 was observed in a spontaneous abortion from a pregnancy conceived by ICSI.
Full monosomy 21 in a liveborn may be impossible without being associated with mosaicism.
www.medgen.ubc.ca /wrobinson/mosaic/mono_21.htm   (415 words)

  
 Monosomy 13 Is Associated With the Transition of Monoclonal Gammopathy of Undetermined Significance to Multiple Myeloma ...
Monosomy 13 Is Associated With the Transition of Monoclonal Gammopathy of Undetermined Significance to Multiple Myeloma -- Avet-Loiseau et al.
Monosomy 13 is observed in 39% of patients with malignant plasma cell disorders, but correlates neither with disease stage nor with progression.
to that of monosomy 13 in MM (35% to 40%).
www.bloodjournal.org /cgi/content/full/94/8/2583   (5548 words)

  
 CD4 deficiency in myelodysplastic syndrome with monosomy 7.
We describe a patient with myelodysplastic syndrome with monosomy 7 presenting with a T-cell defect.
He suffered from infections from the age of 10 years, when a CD4 deficiency and impaired lymphoproliferative responses in vitro were found.
Monosomy 7 was found in the bone marrow cells.
www.aegis.com /aidsline/1997/feb/M9720992.html   (336 words)

  
 Loss of Chromosome 16 From Renal Epithelial Cells in Humans -- Gardner et al. 40 (6): 928 -- Hypertension
Cells that were scored are indicated with green or yellow arrows; parallel yellow arrows point to a cell that exhibited monosomy for chromosome 16.
monosomy for chromosome 1 to the proportion with monosomy for
Predominance of aneuploidy (A) and monosomy (B) for chromosome 16 versus aneuploidy and monosomy for chromosome 1 in renal epithelial cells of urinary sediments.
hyper.ahajournals.org /cgi/content/full/40/6/928   (3469 words)

  
 Trisomy, Monosomy, Ring Chromosome 20p and Genetic Imprinting
Monosomy, or partial monosomy, of chromosome 20p has also been observed and arises from similar mechanisms.
By this approach, we show that the chromosome 18 alpha-satellite DNA block is split into 2 smaller units, whereas the chromosome 20 breakpoint is not included within the alpha-satellite DNA region.
In the second patient, monosomy 20 was detected at the second hematologic relapse, 12 years after the initial diagnosis; cytogenetic studies were not performed at disease onset.
www.mad-cow.org /~tom/chr20_rings_trisomy.html   (4116 words)

  
 Chromosome 11, Partial Monosomy 11q   (Site not responding. Last check: 2007-11-05)
It is possible that the main title of the report Chromosome 11, Partial Monosomy 11q is not the name you expected.
Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted or monosomic).
Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation).
www.luhs.org /health/kbase/htm/nord/641/nord641.htm   (450 words)

  
 Prospective Study of 90 Children Requiring Treatment for Juvenile Myelomonocytic Leukemia or Myelodysplastic Syndrome: ...
the role of monosomy 7 in predicting the prognosis of patients
We examined the role of monosomy 7 in predicting the prognosis
In contrast, the outcome of monosomy 7 patients with AML was
www.jco.org /cgi/content/full/20/2/434   (3523 words)

  
 Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform ...
Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor -- Sloand et al.
Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor
syndrome and monosomy 7, GCSF receptor (GCSFR) protein was increased.
www.pnas.org /cgi/content/short/103/39/14483?rss=1   (352 words)

  
 X Chromosome Monosomy: A Common Mechanism for Autoimmune Diseases -- Invernizzi et al. 175 (1): 575 -- The Journal of ...
X Chromosome Monosomy: A Common Mechanism for Autoimmune Diseases -- Invernizzi et al.
is an elevation of monosomy X in autoimmune disease.
of monosomy X increased with age in all three populations.
www.jimmunol.org /cgi/content/abstract/175/1/575   (372 words)

  
 Chromosome 9, Partial Monosomy 9p
It is possible that the main title of the report Chromosome 9, Partial Monosomy 9p is not the name you expected.
Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome.
In most cases, Chromosome 9, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
www.peacehealth.org /kbase/nord/nord784.htm   (356 words)

  
 Chromosome 10, Monosomy 10p
It is possible that the main title of the report Chromosome 10, Monosomy 10p is not the name you expected.
Chromosome 10, Monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic).
The range and severity of symptoms and findings may be variable, depending upon the exact size or location of the deletion on chromosome 10p.
www.peacehealth.org /kbase/nord/nord1030.htm   (483 words)

  
 Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes -- ...
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes -- Aldred et al.
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
jmg.bmjjournals.com /cgi/content/full/41/6/433   (3546 words)

  
 MakingContact.org - Monosomy 1p36 Deletion Syndrome
I have found 17 people listed against Monosomy 1p36 deletion syndrome They are listed below, sorted by location.
I have a daughter who has been diagnosed with Monosomy 1p36.
My son was born with monosomy 1p 36.
www.makingcontact.org /index.php?ci=1963   (913 words)

  
 Monosomy definition - Medical Dictionary definitions of popular medical terms
Monosomy definition - Medical Dictionary definitions of popular medical terms
For example, if a female has one X chromosome (X monosomy) rather than two, Turner syndrome is the result.
MedicineNet does not provide medical advice, diagnosis or treatment.
www.medterms.com /script/main/art.asp?articlekey=4428   (76 words)

  
 Chromosome 8, Monosomy 8p2 - Quest Diagnostics Patient Health Library   (Site not responding. Last check: 2007-11-05)
Chromosome 8, Monosomy 8p2 - Quest Diagnostics Patient Health Library
It is possible that the main title of the report Chromosome 8, Monosomy 8p2 is not the name you expected.
Healthwise disclaims any liability for the decisions you make based on this information.
www.questdiagnostics.com /kbase/nord/nord1032.htm   (442 words)

  
 Monosomy - Glossary Entry - Genetics Home Reference
Monosomy - Glossary Entry - Genetics Home Reference
The presence of only one chromosome from a pair; partial monosomy refers to the presence of only one copy of a segment of a chromosome
Can changes in chromosomes affect health and development?
ghr.nlm.nih.gov /ghr/glossary/monosomy   (70 words)

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