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Topic: Genetic deletion

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Cri du chat syndrome

Chromosome

	Genetics - Chromosome 15
		A deletion including the q12 band (arrow) of chromosome 15 is contributed by the father and observed in about 70 percent of the subjects with Prader-Willi syndrome.
		The imprinted 15q11-q13 chromosome region includes genetic material (DNA) that is normally active (paternally expressed) on the father's chromosome 15 and inactive on the chromosome 15 inherited from the mother.
		Genetic testing is required to identify maternal disomy 15 or UPD using DNA obtained from the parents and the person with Prader-Willi syndrome.
	www.pwsausa.org /syndrome/genetics__chromosome_15.htm (362 words)

	Chromosome 4 Ring
		Chromosome 4 Ring is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring.
		However, chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of certain chromosomal abnormalities in one of the parents, such as Chromosome 4 Ring, potential mosaicism, or a "balanced translocation" involving chromosome 4.
		Although the size and location of the 4p deletion vary from case to case, it is believed that deletion of band 4p16.3 is the critical region leading to characteristic features of the disorder.
	hw.healthdialog.com /kbase/nord/nord994.htm (2021 words)

	:: PRISMS - Diagnosing SMS (Site not responding. Last check: 2007-10-08)
		People with SMS are born with a small deletion (missing section) of one member of their 17th pair of chromosomes.
		Although SMS is caused by a deletion of genetic material, it usually does not run in families.
		In most cases, the deletion occurs accidentally in a child around the time he or she is conceived, without being inherited from either parent.
	www.prisms.org /WhatisSMS/diagnosingSMS.htm (512 words)

	University of Pennsylvania Health System: News and Periodicals: News Releases (Site not responding. Last check: 2007-10-08)
		This genetic loss translates into a significant life-expectancy gain for some patients and is therefore a robust predictor that post-surgery chemotherapy should be given to such patients.
		Patients with the genetic deletion on chromosome 1 have a median survival in certain cases of about 10 years and respond particularly well to chemotherapy given immediately after surgery.
		Patients with the deletion have slower-growing tumors and show a better response to chemotherapy; whereas, those without the deletion have relatively faster-growing tumors and are less responsive to chemotherapy, so radiation therapy is required sooner.
	www.uphs.upenn.edu /news/News_Releases/aug04/braintumortreatment.htm (771 words)

	FOCUS - April 4, 2003 - ONCOLOGY: Genetic Deletion Hikes Protein, Causes Cancer
		The deletion causes the gene PDGFRA and a newly discovered human gene, FIP1L1, to fuse, resulting in the unregulated expression of the normally silent PDGFRA protein.
		That the deletion causes the cell to express a new protein was unexpected.
		One of the probes kept disappearing, which suggested that the bit of chromosome it was attached to might be deleted.
	focus.hms.harvard.edu /2003/April4_2003/oncology.html (1151 words)

	genetic-programming.org-Home-Page
		Genetic programming (GP) is an automated method for creating a working computer program from a high-level problem statement of a problem.
		Genetic programming starts from a high-level statement of “what needs to be done” and automatically creates a computer program to solve the problem.
		In addition, genetic programming can automatically create, in a single run, a general (parameterized) solution to a problem in the form of a graphical structure whose nodes or edges represent components and where the parameter values of the components are specified by mathematical expressions containing free variables.
	www.genetic-programming.org (2652 words)

	Frequently Asked Questions \| 22q and You Center - Children's Hospital of Philadelphia
		A genetic disorder is one that involves a difference in a chromosome or a single gene.
		In the case of a chromosome 22q11.2 deletion, genetic material is missing (or deleted) from chromosome pair number 22.
		When one parent has a chromosome 22q11.2 deletion, the chance of passing this disorder on to a child is one in two, or 50 percent, with each pregnancy.
	www.chop.edu /consumer/jsp/division/generic.jsp?id=74640 (440 words)

	Linking brain to mind in a common genetic disease
		Chromosome 22q11.2 deletion syndrome is one of the most common genetic sources of developmental disability.
		In the early 1980s, geneticists at Children's Hospital were among the researchers that identified deletions in chromosome 22 as responsible for the syndrome, and later developed a diagnostic test for the syndrome that is now used around the world.
		With sponsorship from the National Institutes of Health, researches from Children's Hospital produced a map of chromosome 22 in 1995, and in 1999, collaborated with the Human Genome Project in publishing the sequence of chromosome 22, the first human chromosome to be sequenced under that Project.
	www.eurekalert.org /pub_releases/2005-03/chop-lbt030205.php (1141 words)

	What is Cri du Chat ?
		There are a number of genetic mishaps which can result in a child being born with cri du chat syndrome and all involve a missing or deleted part of the short arm of one of the pair of number five chromosomes.
		Approximately 80% are caused by a spontaneous deletion in one of the child's number 5 chromosomes, 10-13% by an error in a number five chromosome in either parent and the remaining 7-10% result from rare genetic anomalies.
		Although it is possible that some of the effects of this genetic deletion may eventually be treated by this method, it is unlikely in the near future.
	www.criduchat.asn.au /criduchat/what.htm (3791 words)

	Current topic: Behavioural phenotypes: what do they teach us? -- Skuse 82 (3): 222 -- Archives of Disease in Childhood
		Deletion mapping of cognitive or behavioural traits is fine in theory, but difficult in practice, as is illustrated by this
		of the phenotype in the presence of a deletion of the gene of
		Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
	adc.bmjjournals.com /cgi/content/full/82/3/222 (2416 words)

	Genetic Changes in Normal Epithelium of the Cancerous Breast
		However, genetic alterations are a hallmark of malignancy, presumably detectable at all stages of tumorigenesis.
		Taken together, these facts suggest that deletions of breast cancer disposition genes may be among the earliest alterations detectable in precursor lesions in the cancerous field surrounding the primary tumor.
		This observation suggests that mutations in the p53 gene which are commonly observed in advanced Stage III and IV non-familial breast tumors represent the second inactivating ‘hit’ preceded by a partial genetic deletion, which occurs at the pre-invasive stage and even earlier in some cases.
	www.cbcrp.org /research/PageGrantPrintPage.asp?grant_id=2007 (1433 words)

	University of Chicago Hospitals: Researchers pin muscle disease to genetic mutation
		A collaborative effort by researchers at the University of Chicago and a group from Barcelona, Spain has shown that a specific genetic deletion is responsible for one form of myopathy--a weakening of the heart and body muscle that often leads to heart failure and generalized muscle degeneration.
		Although the condition is uncommon, this discovery makes possible genetic testing for couples concerned about passing the disease to their children because of histories of the disease in their families.
		Preliminary genetic tests determined that a piece of the gene responsible for the protein desmin--a protein that forms a type of muscle filament--was missing.
	www.uchospitals.edu /news/1998/19980915-fuchsdesmin.html (495 words)

	Schizophrenia Daily News Blog: Genetic Mutations Cause Schizophrenia
		The study found one of the genes on the part of the chromosome that is missing is responsible for a protein that degrades dopamine, a critical chemical messenger, or 'neurotransmitter', in the brain.
		Posted by: captain johann at October 25, 2005 07:11 AM This study is on a single genetic mutation that is thought to be responsible for a small percent (1 to 5 percent - I don't have the exact figure in front of me) of schizophrenia cases.
		Posted by: szadmin at October 25, 2005 02:44 PM I think the idea is that this deletion would be just one of many different yet to be found gene defects that could cause the symptoms we see.
	www.schizophrenia.com /sznews/archives/002552.html (1629 words)

	Clinical Genetics [M.Tevfik DORAK]
		Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene (
		It may be an adult-onset disease with genetic anticipation but the carriers of the gene in the previous generations did not live long enough to express the disease.
		Diseases caused by haploinsufficiency are characterized by the lack of a correlation between the severity of the genetic defect (for example, size of a deletion) and the phenotype.
	members.tripod.com /~dorakmt/genetics/notes05.html (3670 words)

	HUM-MOLGEN: Teens with Deletion Syndrome Confirm Gene's Role in Psychosis
		Youth with this genetic chromosomal deletion syndrome already had a nearly 30-fold higher-than-normal risk of schizophrenia, but those who also had one of two common versions of the suspect gene had worse symptoms.
		The gene version appeared to worsen symptoms of the deletion syndrome by chronically boosting the chemical messenger dopamine to excessive levels in the brain's executive hub, the prefrontal cortex, during development.
		Since about 30 percent of people with the chromosomal deletion syndrome also develop schizophrenia or related psychotic disorders — compared to only one percent of the general population — Reiss and colleagues suspected that people with the syndrome may hold unique clues about how the COMT gene influences development of the mental disorder.
	hum-molgen.org /NewsGen/10-2005/msg53.html (505 words)

	High-Resolution Genetic Mapping With Ordered Arrays of Saccharomyces cerevisiae Deletion Mutants -- Jorgensen et al. ...
		Gene deletions that consistently exhibited synthetic interactions with deletions in Cbk1 pathway genes, found in at least four out of five screens, are represented as red lines and were found scattered throughout the genome.
		Each deletion strain is represented twice on the plate, located immediately diagonal to one another.
		The deletion strains are arrayed on the plates in the same order as the corresponding genes on chromosome IV.
	www.genetics.org /cgi/content/full/162/3/1091 (4758 words)

	The Genetic Basis of Neurological Disorders
		And yet, genetic research strongly suggests that some human deviant behavior may be explainable by the presence or absence of discernible genes-sequences of chemicals called "base pairs".
		This unit "The Genetic Basis of Neurological Disorders," describes some aspects of known genetic defects on the human neurological condition.
		A review of basic genetic concepts is essential to glean a full understanding of these inheritance patterns.
	www.accessexcellence.org /AE/AEPC/WWC/1994/neurological.html (823 words)

	Chromosome 15 Ring
		Chromosome 15 Ring results from loss (deletion) of genetic material from both ends of the 15th chromosome and a joining of the ends to form a ring.
		Evidence suggests that the clinical features seen in Chromosome 15 Ring appear to result from deletions of genetic material from the long arm (q) of chromosome 15 (known as "monosomy 15q"), with the ring chromosome typically replacing a normal 15th chromosome.
		Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of Chromosome 15 Ring, potential mosaicism, or a balanced translocation in one of the parents.
	www.peacehealth.org /kbase/nord/nord971.htm (767 words)

	Regional Patterns of Compensation following Genetic Deletion of Either 5-Hydroxytryptamine1A or 5-Hydroxytryptamine1B ...
		Invernizzi R, Velasco C, Bramante M, Longo A and Samanin R (1997) Effect of 5-HT receptor antagonists on citalopram-induced increase in extracellular serotonin in the frontal cortex, striatum, and dorsal hippocampus.
		Knobelman DA, Hen R and Lucki I (2001) Genetic regulation of extracellular 5-HT by 5-HT and 5-HT autoreceptors in different brain regions.
		Knobelman DA, Kung HF and Lucki I (2000) Regulation of extracellular concentrations of 5-hydroxytryptamine in the mouse striatum by 5-HT and 5-HT receptors.
	jpet.aspetjournals.org /cgi/content/full/298/3/1092 (6215 words)

	Treating children with DiGeorge, velocardiofacial and other syndromes \| 22q and You Center - Children's Hospital of ...
		Chromosome 22q11.2 deletion -- a genetic disorder at the root of syndromes such as DiGeorge and velocardiofacial syndromes -- may cause a variety of health problems, ranging from heart defects and cleft palate to feeding problems, immune problems, a unique pattern of learning disabilities and more.
		We also continue to lead the way in researching 22q11.2 deletion, hoping to find out more about what causes it, how it affects children and how we can make their lives even better.
		Whether you're a parent of a child newly diagnosed with the chromosome 22q deletion, or if you've been coping with the diagnosis for years, this Web site is for you.
	www.chop.edu /consumer/jsp/division/service.jsp?id=74652 (394 words)

	THE MERCK MANUAL--SECOND HOME EDITION, Introduction in Ch. 266, Chromosomal and Genetic Abnormalities
		Some genetic abnormalities affect the genes, but do not alter the structure of the chromosomes (see Genetics: Gene Abnormalities).
		A chromosomal or other genetic abnormality can affect the number of chromosomes, the structure of certain chromosomes, or the composition of chromosomes (for example, genetic material from one chromosome may be attached to another).
		Genetic abnormalities can cause birth defects or diseases (for example, sickle cell disease) or have many different effects.
	www.merck.com /mmhe/ag/print/sec23/ch266/ch266a.html (566 words)

	Deletion at 13q21 Is Associated with Aggressive Prostate Cancers -- Dong et al. 60 (14): 3880 -- Cancer Research (Site not responding. Last check: 2007-10-08)
		Deletion at 13q21 Is Associated with Aggressive Prostate Cancers -- Dong et al.
		The minimal region of the deletion was confined to a DNA fragment
		Detection of deletion at 13q21 in prostate cancer by duplex PCR assay.
	cancerres.aacrjournals.org /cgi/content/full/60/14/3880 (3539 words)

	Comparing Genomes within the Species Mycobacterium tuberculosis -- Kato-Maeda et al. 11 (4): 547 -- Genome Research
		Color of deletion regions varies by number of detected deletions within the 100-kb segment (light blue, 1 deletion; light green, 2 deletions; orange, 3 deletions).
		The deletion of a polyketide synthase gene (pks5) in the
		observed is a consequence of mycobacterial population genetics.
	www.genome.org /cgi/content/full/11/4/547 (4885 words)

	genetic-programming.com-Home-Page
		Genetic programming sometimes also employs developmental processes by which an embryo grows into fully developed organism.
		36 human-competitive results produced by genetic programming, including 21 previously patented inventions replicated by genetic programming and 2 patentable new inventions generated by genetic programming.
		Genetic Programming II: Automatic Discovery of Reusable Programs from The MIT Press.
	www.genetic-programming.com (2675 words)

	Detection of Deleted Genomic DNA Using a Semiautomated Computational Analysis of GeneChip Data -- Salamon et al. 10 ...
		Genetic diversity among isolates of Mycobacterium tuberculosis may in part be caused by genetic deletions (Mahairas et al.
		Deletion polymorphism, that is, polymorphism in the genomic content among individuals, is probably of consequence to phenotypic
		The use of genomic deletion screens should be defined by a clear understanding of which population is to be studied, and the
	www.genome.org /cgi/content/full/10/12/2044 (5722 words)

	Genetic Deletion of the Repressor of Estrogen Receptor Activity (REA) Enhances the Response to Estrogen in Target ...
		Genetic Deletion of the Repressor of Estrogen Receptor Activity (REA) Enhances the Response to Estrogen in Target Tissues In Vivo -- Park et al.
		Genetic Deletion of the Repressor of Estrogen Receptor Activity (REA) Enhances the Response to Estrogen in Target Tissues In Vivo
		Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction.
	mcb.asm.org /cgi/content/full/25/5/1989 (7198 words)

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