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Interstitial1

• out the chromosome material between them You will, sometimes see this type of deletion called interstitial. (savepdf.org)

Genes5

• lost or deleted If the missing chromosome material contains important genes. (savepdf.org)
• been lost and where the deletion is,Genes and chromosomes. (savepdf.org)
• development and how our bodies work, Genes are carried on microscopically small thread like structures called chromosomes. (savepdf.org)
• 2 is almost the largest chromosome and contains nearly 1400 known genes. (savepdf.org)
• Smaller deletions generally remove fewer genes and newer. (savepdf.org)

Short arm1

• Each chromosome has a short arm at the top in the diagram below called p from. (savepdf.org)

Means1

• Deletions between 2q31 and 2q33, A chromosome deletion means that a part of one of the body s chromosomes has been. (savepdf.org)

Child1

• precise than a traditional chromosome analysis,Families say What is special about my child. (savepdf.org)

Material1

• deletion material has been lost from the long arm of one of the two chromosome 2s. (savepdf.org)

Long1

• Long q If it is large enough to be visible when magnified under a. arm microscope it is called a deletion Sometimes it is so tiny that. (savepdf.org)

Tiny1

• The missing piece of chromosome can be tiny or much larger. (savepdf.org)

Thought1

• This one, which I thought we already had, will be looking at a chromosome deletion or addition. (wordpress.com)

Syndrome76

• Chromosome 22q11.2 Deletion Syndrome (22q11DS) is the most common microdeletion disorder in humans. (drexel.edu)
• UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety ― but not intelligence ― is linked to poorer adaptive behaviors, such as self-care and communication skills, that affect daily life. (ucdavis.edu)
• MIND Institute researchers Kathleen Ankustsiri and Tony Simon with 22q11.2 deletion syndrome patient Mariana Syed. (ucdavis.edu)
• Our study confirmed our impressions from seeing patients with 22q deletion syndrome that those with more severe anxiety symptoms tend to be most impaired in their everyday functioning," said Kathleen Angkustsiri , lead study author and assistant professor of developmental-behavioral pediatrics with the UC Davis MIND Institute . (ucdavis.edu)
• The currently preferred name of chromosome 22q11.2 deletion syndrome identifies the location on the twenty-second chromosome where a small piece of DNA is missing. (ucdavis.edu)
• Children with 22q11.2 deletion syndrome have a high prevalence of mental-health disorders such as anxiety and attention deficit hyperactivity disorder (ADHD), and IQs usually are in the borderline-to-low range. (ucdavis.edu)
• Mean anxiety scores were found to be significantly higher in children with 22q11.2 deletion syndrome than in typically developing children. (ucdavis.edu)
• This analysis, supplemented by historical research and fieldwork with relevant experts and the advocates of affected children conducted during 2011-12, reveals that the 22q11.2 deletion acted as a 'boundary object' that unified clinical literatures and led to the emergence of a new kind of medical condition: 22q11.2 Deletion Syndrome (DS). (repec.org)
• World Trade Center Gibraltar will be showing their support and raising awareness for the International Day of Syndrome 22Q11 - a rare chromosome deletion syndrome in new-born babies - by lighting up the entire building in red lights. (chronicle.gi)
• Karotype revealed a de novo deletion of the long arm of chromosome 11, del (11)(q23), which has been previously described as Jacobsen syndrome. (jaoa.org)
• The syndrome is caused by heterozygous contiguous gene deletions of variable size on chromosome 11, involving a region that encompasses more than 100 genes, many of which have unknown function in humans. (clinicaltrials.gov)
• In our preliminary studies, we have observed that approximately two-thirds of patients with WAGR syndrome have deletion of the gene which encodes brain-derived neurotrophic factor (BDNF), and that BDNF haploinsufficiency is associated with obesity and with parent reports of hyperphagia and impaired nociception, suggesting that BDNF may play an important role in human energy balance as well as pain sensation. (clinicaltrials.gov)
• We now propose to conduct a comprehensive clinical phenotype-genotype study on patients with WAGR syndrome and other 11p deletions. (clinicaltrials.gov)
• DiGeorge syndrome is associated with microdeletions of chromosome 22q11 and is therefore likely to be caused by reduced dosage of genes within this region. (nih.gov)
• We present preliminary data that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11. (nih.gov)
• More detailed information about the symptoms , causes , and treatments of Chromosome 10p deletion syndrome is available below. (rightdiagnosis.com)
• p12-11.2 Deletion Syndrome can cause unusual facial features, developmental delays, small head circumference, & increased risk of kidney tumor. (healthtap.com)
• I am wondering if people living with c-18Q- chromosomal deletion syndrome have trouble fighting off infections or have low levels of iga. (healthtap.com)
• My daughter has deletion 22q chromosome syndrome. (healthtap.com)
• Could be myelodysplastic syndrome with fanconi's anemia , or one of several other aberrations that may arise from chromosome 7 abnormalities. (healthtap.com)
• 1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability . (nih.gov)
• 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1 . (nih.gov)
• only about 20% of the cases of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. (nih.gov)
• Identification of critical regions for clinical features of distal 10q deletion syndrome. (nih.gov)
• In fact, patients with a deletion of the region have a disorder called 16p11.2 deletion syndrome . (highlighthealth.com)
• Distal Chromosome 18q Deletion Syndrome, also known as deletion of long arm of chromosome 18 , is related to chromosome 18p deletion syndrome and chromosome 18q deletion syndrome , and has symptoms including seizures , tremor and joint laxity . (malacards.org)
• 25 Distal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. (malacards.org)
• Distal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals. (malacards.org)
• BACKGROUND: Haploinsufficiency of the ribosomal protein S14 RPS14 gene, located in the common deleted region of chromosome 5q, is a potential causal factor of 5q- syndrome. (druglib.com)
• The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. (springer.com)
• The deletion has been identified in most patients with DiGeorge syndrome, velocardiofacial syndrome and conotruncal anomaly face syndrome. (springer.com)
• Less commonly a genetic disorder like chromosome 22q11.2 deletion syndrome can be the culprit condition. (springer.com)
• Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with cognitive deficits and morphometric brain abnormalities in childhood and a markedly elevated risk of schizophrenia in adolescence/early adulthood. (uncg.edu)
• The COMT gene is thought to contribute to the cognitive/psychiatric phenotypes in 22q11.2 deletion syndrome. (uncg.edu)
• Conclusions It is known that the patients with deletions in 7 p21-p14.3 chromosome region have mental retardation and facial features similar to Greig syndrome and patients with 22q12 deletions have mental retardation, hearing loss and heart disease. (bmj.com)
• BACKGROUND: The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. (uzh.ch)
• CONCLUSIONS: In KANSL1 haploinsufficiency syndrome, chromosome deletions are greatly prevalent compared with KANSL1 mutations. (uzh.ch)
• Chromosome 11q partial deletion , also known as Jacobsen syndrome, is a rare genetic condition. (globalgenes.org)
• 2010). An extended 1.7-Mb deletion of chromosome 16p11.2 containing both the 220-kb region and the proximal 593-kb region associated autism (see 611913) has been reported in 2 patients with a syndrome of autism, mental retardation, and obesity and in 2 patients with pervasive developmental disorder, auditory processing difficulties, and attention deficit-hyperactivity disorder but not obesity. (malacards.org)
• Chromosome 16p11.2 Deletion Syndrome, 220-Kb, is also known as chromosome 16p11.2 deletion syndrome, 220kb . (malacards.org)
• An important gene associated with Chromosome 16p11.2 Deletion Syndrome, 220-Kb is BMIQ16 (Chromosome 16p11.2 Deletion Syndrome, 220kb). (malacards.org)
• Atypical cortical connectivity and visuospatial cognitive impairments are related in children with chromosome 22q11.2 deletion syndrome. (escholarship.org)
• BACKGROUND:Chromosome 22q11.2 deletion syndrome is one of the most common genetic causes of cognitive impairment and developmental disability yet little is known about the neural bases of those challenges. (escholarship.org)
• CONCLUSION:Our results suggest that atypical development of connective patterns in the brains of children with chromosome 22q11.2 deletion syndrome indicate a neuropathology that is related to the visuospatial cognitive impairments that are commonly found in affected individuals. (escholarship.org)
• Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. (mendelian.co)
• Hybrid cell lines, obtained after fusion of rodent cells with leukocytes from a patient with the aniridia-Wilms' tumor syndrome and carrying a specific constitutional deletion in chromosome #11 (del.11p13), were assayed for the presence of the c-Ha-ras1 oncogene. (stanford.edu)
• This sequence has recently been assigned to the p-arm of chromosome #11 and, hence, has been suggested to be involved in the development of renal tumors in patients with this syndrome. (stanford.edu)
• The extent of the deletion suggests that this unique syndrome is related to the complete absence of these genes' products, one of which may be essential for the synthesis of mitochondrial encoded proteins. (mysciencework.com)
• Since the baby had findings strongly suggestive of DiGeorge syndrome, the FISH study to detect a possible deletion in the critical 22q11.2 region was done using DNA probe specific for the 22q11.2 locus. (biomedcentral.com)
• Children with chromosome 22q11.2 deletion syndrome commonly are found to have morphological brain changes, cognitive impairments, and elevated rates of psychopathology. (elsevier.com)
• The most helpful information you will find is through support groups, like Marie Montroy's original Yahoo Chromosome 6 Deletion Syndrome group , and others now available through social networking sites like Facebook . (hope4katy.com)
• It us common for kids with chromosome 6 deletion to carry the phenotype of Prader Wili syndrome. (hope4katy.com)
• 22q11.2 deletion syndrome is a disorder involving heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, low calcium levels, and an increased risk of behavioral problems and mental illness such as schizophrenia. (medlineplus.gov)
• Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (medlineplus.gov)
• The loss of a particular gene, TBX1 , is thought to be responsible for many of the physical features characteristic of 22q11.2 deletion syndrome. (medlineplus.gov)
• Additional genes in the deleted region likely contribute to the varied signs and symptoms of 22q11.2 deletion syndrome. (medlineplus.gov)
• This sequence is the same one that is missing in 22q11.2 deletion syndrome. (medlineplus.gov)
• 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is caused by a deletion near the end of the long (q) arm of chromosome 22. (medlineplus.gov)
• A ring chromosome 22 can also cause 22q13.3 deletion syndrome. (medlineplus.gov)
• The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes at the end of chromosome 22. (medlineplus.gov)
• The loss of a particular gene, SHANK3 , is thought to be responsible for many of the characteristic features of 22q13.3 deletion syndrome, such as developmental delay, intellectual disability, and absent or severely delayed speech. (medlineplus.gov)
• 19p13.13 deletion syndrome results from the deletion of a small piece of the short (p) arm of chromosome 19 in each cell. (medlineplus.gov)
• Major features of 19p13.13 deletion syndrome include an unusually large head size (macrocephaly), tall stature, delayed development of speech and motor skills (such as sitting and walking), and intellectual disability that is usually moderate in severity. (medlineplus.gov)
• The signs and symptoms of 19p13.13 deletion syndrome result from the loss of multiple genes in the deleted region. (medlineplus.gov)
• A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. (icd10data.com)
• Deletion of the short arm of chromosome 5 characterized by a variable clinical picture consisting of severe mental deficiency, growth retardation, multiple abnormalities and a peculiar crying sound resembling that of a suffering kitten (hence the synonym crying cat syndrome or cri du chat syndrome), that disappears within weeks or months after birth. (icd10data.com)
• A related developmental disorder known as Potacki-Lupski syndrome ( 610883 ) involving the same locus on chromosome 17 has a similar behavioral profile. (arizona.edu)
• Most patients (90%) with the Smith-Magenis syndrome have interstitial deletions in the short arm of chromosome 17 (17p11.2). (arizona.edu)
• In Potocki-Lupski syndrome ( 610883 ) there is duplication of the 17p11.2 microdeletion as the reciprocal recombination product of the SMS deletion. (arizona.edu)
• One example of a genetic syndrome caused by a deletion is called "Cri du Chat," where part of the #5 chromosome is missing or deleted. (rochester.edu)
• One example of a rare genetic disorder of duplication is called Pallister Killian syndrome, where part of the #12 chromosome is duplicated. (rochester.edu)
• Pallister Killian syndrome is a result of extra #12 chromosome material. (rochester.edu)
• 26-year-old female diagnosed with Chromosome 22 micro-deletion syndrome (VCFS). (doctorsmedicalopinion.com)
• Given this is a striking clinical picture for a chromosome 22q11.2 microdeletion syndrome (DiGeorge/ Velocardiofacial Syndrome) , it led to closer diagnostic examination by FISH to study the chromosomal region 22q11.2 which confirmed the medical hypothesis. (doctorsmedicalopinion.com)
• Prader-Willi syndrome (PWS) is a genetic condition caused by the absence of chromosomal material from chromosome 15. (encyclopedia.com)
• If the deletion is on the chromosome 15 inherited from one's mother, a different syndrome develops. (encyclopedia.com)

Short arm of chromosome8

• Monosomy 1p36 or the deletion of the chromosome band 1p36 (on the outermost band on the short arm of chromosome 1), has been recognized as one of the most common case of chromosome deletion with incidence of 1 in 5,000 to 1 in 10,000. (brighthub.com)
• To define the region of common deletion containing the putative tumor suppressor gene, we analyzed a series of 87 carcinomas for allele loss in different regions of the short arm of chromosome 8 by using Southern blot analysis and a panel of polymorphic probes. (nih.gov)
• These findings suggest the presence of two discrete genes related to colorectal carcinogenesis on the short arm of chromosome 8. (nih.gov)
• Previous studies have demonstrated that allelic deletions of the short arm of chromosome 17 occur in over 75% of colorectal carcinomas. (sciencemag.org)
• In this study we analyzed prostate cancer specimens from 52 patients for allelic loss using 8 polymorphic probes for the short arm of chromosome 8. (aacrjournals.org)
• Deletion of the short arm of chromosome 10 with retarded psychomotor development and variable abnormalities, including dwarfism, craniofacial dysmorphism (downslanting palpebral fissures, anteverted nostrils, and eye and ear anomalies), deformed hands and feet, cryptorchidism, and dysplasia of the olfactory system. (rightdiagnosis.com)
• Interstitial deletions in the short arm of chromosome 1 are infrequent. (figshare.com)
• People with this condition are missing anywhere from about 300,000 DNA building blocks (300 kilobases or 300 Kb) to more than 3 million DNA building blocks (3 megabases or 3 Mb) on the short arm of chromosome 19. (medlineplus.gov)

Monosomy3

• Moreover, monosomy of chromosome 7 and 7q deletions have been associated in acute myeloid leukemia (AML) with aggressive disease and poor prognosis. (haematologica.org)
• The issues related to the role of Y chromosome deletions in the origins of X chromosome monosomy and X/XY mosaicism are discussed. (deepdyve.com)
• Other possible changes include the presence of an extra piece of the chromosome in each cell (partial trisomy 19) or the absence of a larger segment of the chromosome in each cell (partial monosomy 19). (medlineplus.gov)

Phenotype13

• As genes controlling cell growth and differentiation may be related to morphological defects originating during development, we postulate that the observed chromosome deletion could be causative of the phenotype observed in the twin girls and the deleted genes could play a role in PS development. (springer.com)
• The phenotype observed in the two patients was very different, as patient 2, who had the largest deletion, had severe kyphosis not observed in patient 1. (biomedsearch.com)
• The region of deletion contains 129 genes, none of which have any clear association with the patient's phenotype in the literature. (thefreelibrary.com)
• Nonrandom distribution of markers with null alleles suggests that the Li 2 phenotype results from a 176- to 221-kb deletion of the terminal region of chromosome 18 that may have been masked in prior pooled-sample mapping strategies. (plantphysiol.org)
• The lack of causative association between the deletion of specific gene copies and infertility suggests that AZFc gene content might be part of a multifactorial network, with Y-lineage evolution emerging as a possible phenotype modulator. (biomedcentral.com)
• The Affymetrix microarray solutions is a powerful flexible method for detection of rare chromosomal aberrations which can help to paediatricians and clinical geneticists explain and describe new phenotype in patients with rare chromosome disorders. (bmj.com)
• In some cases no deletion has been detected and the abnormal phenotype has been attributed to mitotic ring instability. (uzh.ch)
• Prevalence of chromosome deletions compared with point mutations, genotype-phenotype correlations and phenotypic variability have yet to be fully clarified. (uzh.ch)
• METHODS: We report genotype-phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation, 3 of whom were not previously reported. (uzh.ch)
• We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. (biomedcentral.com)
• This observation indicates that altered size of the deletion may be the underlying etiology for the discordance in phenotype in monozygotic twins. (biomedcentral.com)
• While there is considerable phenotypic overlap, individuals with chromosomal deletions have the more severe phenotype as might be expected. (arizona.edu)
• However, the phenotype is highly variable among patients with deletions depending upon the nature and size of the deletion. (arizona.edu)

Rare chromosome disorders3

• Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
• Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. (chromodisorder.org)
• Unique is a source of information and support to families and individuals affected by rare chromosome disorders. (nih.gov)

Microdeletions8

• Microdeletions of chromosome 15q24 have been demonstrated to be recurrent genomic alterations in ASD patients. (ovid.com)
• The Y chromosome macro-and microdeletions were detected in 61 (7.5%) infertile men. (deepdyve.com)
• On the whole, the frequencies of Yq microdeletions and the genophenotypic correlations characteristic of various AZF deletion types agree with the relevant published data. (deepdyve.com)
• It was demonstrated that the breakpoints were localized between AZFa and AZFb regions proximally to AZFb+c microdeletions for the majority of cytogenetically detectable deletions of the Y chromosome long arm. (deepdyve.com)
• Among the changes in chromosome 19 that have been reported are microdeletions, which remove a relatively small number of genes. (medlineplus.gov)
• We investigated the frequency and types of Y-chromosome microdeletions and chromosomal anomalies in non-obstructive azoospermic and severely oligozoospermic infertile males in northeastern China. (geneticsmr.com)
• PCR assays for Y-chromosome microdeletions and chromosome analysis were performed on all patients and controls. (geneticsmr.com)
• Fifty-nine of 519 patients (11.37%) had Y-chromosome microdeletions. (geneticsmr.com)

Loci9

• In the SLT experiments, genetic lesions including point mutations, chromosomal rearrangements, and intra- and multilocus deletions were recovered at seven different loci that when mutated yield viable and readily visible recessive phenotypes. (genetics.org)
• Extension of this approach to other loci, including human tumors potentially homozygous for small deletions, should also be possible. (pnas.org)
• We have characterized the copy number of various loci on chromosome 3p in a series of breast cancers. (aacrjournals.org)
• Using a panel of twenty microsatellite loci spanning the regions on chromosome Yq that have been associated with male infertility, each sample is analyzed by polymerase chain reaction (PCR) for the presence of a deletion. (uhhospitals.org)
• We have utilized 31 DNA probes which map to the WAGR deletion region, together with six reference loci and 13 WAGR-related deletions, to subdivide this area into 16 intervals. (uni-wuerzburg.de)
• Delineation, by specific probes, of multiple intervals above and below the critical region and of five intervals within the overlap area provides a framework map for molecular characterization of WAGR gene loci and of deletion boundary regions. (uni-wuerzburg.de)
• Further, at least 7 of the 10 putative fiber development genes in the deletion region showed higher expression in the wild type than in Li 2 mutants during fiber development stages, suggesting coordinated regulation of processes in cell wall development and cell elongation, consistent with the hypothesis that some fiber-related quantitative trait loci comprise closely spaced groups of functionally diverse but coordinately regulated genes. (plantphysiol.org)
• A familial 'balanced' 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. (semanticscholar.org)
• In human, seven of the chromosome 8 genes lie at two distinct loci approximately 5 Mb apart as a highly copy number variable (CNV) cluster, which vary between 2 and 7 copies per genome . (prolekare.cz)

Phenotypes3

• Yet, partial AZFc deletions yield phenotypes ranging from normospermia to azoospermia, thwarting definite conclusions on their real impact on fertility. (biomedcentral.com)
• BACKGROUND AND METHODS: Ring chromosomes are often associated with abnormal phenotypes because of loss of genomic material at one or both ends. (uzh.ch)
• However, owing to this complex structure, aneuploid stocks can be developed in which fragments or entire chromosomes are missing, sometimes resulting in visible phenotypes that help in the cloning of affected genes. (inrae.fr)

Balanced translocation2

• however, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. (malacards.org)
• the balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. (malacards.org)

Homozygous deletion6

• Additionally, four cases had break points within the 3p24-26 region and one case had a homozygous deletion at 3p13, further supporting the hypothesis that there are tumor suppressor genes at both 3p13-14 and 3p24-26. (aacrjournals.org)
• In addition to frequent loss of one allele at the MSR locus, one metastatic prostate cancer sample demonstrated homozygous deletion of MSR sequences. (aacrjournals.org)
• This study extends the previous finding of frequent loss of chromosome 8p in prostate cancer by defining a common region of loss of heterozygosity at 8p22 and a homozygous deletion of the MSR locus contained within this region. (aacrjournals.org)
• This is the first homozygous deletion identified in the genome of a human prostate cancer and the highest rate of loss yet reported on chromosome 8p in cancer. (aacrjournals.org)
• We show here that homozygous deletion of a cluster of nine β-defensin genes ( DefbΔ9 ) in the mouse results in male sterility. (prolekare.cz)
• The molecular basis of this disorder is a homozygous deletion of 179,311 bp on chromosome 2p16, which includes the type I cystinuria gene (SLC3A1), the protein phosphatase 2Cβ gene (PP2Cβ), an unidentified gene (KIAA0436), and several expressed sequence tags. (mysciencework.com)

Fluorescence in-situ hybri5

• Since it was diagnosed in 1980s using the amniocentesis, high-resolution G-banding, chromosome-specific fluorescence in-situ hybridization (FISH) with probes for 1p and by subtelomeric probe screening, knowledge on this chromosomal aberration have greatly increased and clear clinical descriptions were consequently laid. (brighthub.com)
• Also, cells from a patient with a constitutional deletion of 1p36, and from a neuroblastoma cell line with a small 1p36 deletion, were analyzed by fluorescence in situ hybridization. (pnas.org)
• To validate the LOH data and to gain insights into the mechanisms resulting in LOH, chromosome 3 pericentromeric and 3p region-specific DNA probes were used to determine the DNA copy number by fluorescence in situ hybridization (FISH). (aacrjournals.org)
• In all, 99 bladder tumors were screened for deletions at 8p using loss of heterozygosity (LOH) and multicolor fluorescence in situ hybridization FISH analyses. (uni-regensburg.de)
• Because the second targeting event may affect either homolog of chromosome 11, cell lines with targeted integrations on one or two chromosomes, respectively, were subsequently selected by fluorescence in situ hybridization ( Figure 2 ). (nature.com)

Distal chromosome2

• To characterize the region of consistent deletion, we performed loss of heterozygosity (LOH) studies on 122 neuroblastoma tumor samples with 30 distal chromosome 1p polymorphisms. (pnas.org)
• 50 distal chromosome 18q deletionsyndromeis a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. (malacards.org)

Duplication18

• Duplication of chromosome 4 at 10 to 35 cM occurred in 68.0% +/- 11.0 of the cell cultures. (cdc.gov)
• The researchers analyzed 115 children: 43 with the 16p11.2 deletion, 23 with the 16p11.2 duplication, and 49 healthy controls. (eurekalert.org)
• Only a fraction of the children had ASD diagnoses: 11 of the 43 with the deletion, and 2 of the 23 with the duplication. (eurekalert.org)
• Lead by research leader Timothy P.L. Roberts, PhD, vice chair of Radiology Research at CHOP and a researcher at CHOP's Center for Autism Research , scientists analyzed 115 children: 65 with copy number variants (43 with the 16p11.2 deletion and 23 with the 16p11.2 duplication) and 49 healthy controls. (highlighthealth.com)
• Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. (highlighthealth.com)
• The KIAA1549-BRAF fusion typically results from a 2.0 Mb tandem duplication in chromosome band 7q34. (sigmaaldrich.com)
• In one patient, we detected a hemizygous 1.97-Mb deletion at 15q23q24.1 encompassing the NEO1 gene, a missense variant in NEO1, c.3388C>T (p.Arg1130Cys), and a duplication, c.2204-14_2204-2dup, in the acceptor splice site of intron 14 of NEO1. (ovid.com)
• A male infant with a deletion of 9p and concomitant duplication of 4q: 46,XY, der(9)t(4;9)(q27;p24), is described. (semanticscholar.org)
• RESULTS: In seven cases we found not only the expected terminal deletion but also a contiguous duplication. (uzh.ch)
• Thus these ring chromosomes derived through a classical inv dup del rearrangement consisting of a deletion and an inverted duplication. (uzh.ch)
• 22q11.2 duplication is caused by an extra copy of some genetic material at position q11.2 on chromosome 22. (medlineplus.gov)
• The duplication affects one of the two copies of chromosome 22 in each cell. (medlineplus.gov)
• My son of 5 has just been diagnosed with the duplication of the 16th chromosome short arm. (medhelp.org)
• The term "duplication" simply means that a part of a chromosome is duplicated, or present in 2 copies. (rochester.edu)
• Since a very small piece of a chromosome can contain many different genes, the extra genes present in a duplication may cause those genes to not function properly. (rochester.edu)
• One way to think of a duplication is to think of all 46 chromosomes as a cookbook, and each individual chromosome as a recipe. (rochester.edu)
• If a deletion is a missing ingredient in the recipe, a duplication is an extra ingredient. (rochester.edu)
• Also, when I was eleven, doctors finally found an abnormality in my DNA, a significant deletion and duplication on chromosome 19. (awareofangels.org)

Genetic material12

• Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. (wikipedia.org)
• The deletion of genetic material on chromosome 11 may account for a significant percentage of these high-risk neuroblastomas," said Dr. Attiyeh. (bio-medicine.org)
• A full set of genetic material consisting of paired chromosomes, one from each parental set. (google.com)
• A chromosome 6 deletion is a rare disorder in which some of the genetic material that makes up one of the body's 46 chromosomes - specifically chromosome 6 in this case - is missing. (hope4katy.com)
• A rearrangement (translocation) of genetic material between chromosomes 9 and 22 causes a type of cancer of blood-forming cells called chronic myeloid leukemia. (medlineplus.gov)
• Translocations of genetic material between chromosome 19 and another chromosome can also lead to extra or missing material from chromosome 19. (medlineplus.gov)
• Rearrangements of genetic material between chromosome 19 and one of several other chromosomes have been found in some forms of blood cancer (leukemia). (medlineplus.gov)
• This results in having extra genetic material, even though the total number of chromosomes is usually normal. (rochester.edu)
• Initially, scientists found that individuals with PWS have a portion of genetic material deleted (erased) from chromosome 15. (encyclopedia.com)
• In order to have PWS, the genetic material must be deleted from the chromosome 15 received from one's father. (encyclopedia.com)
• Over time, scientists realized that some individuals with PWS do not have genetic material deleted from chromosome 15. (encyclopedia.com)
• A small number of patients with PWS have a change (mutation) in the genetic material on the chromosome 15 inherited from their father. (encyclopedia.com)

Long arm13

• Interstitial deletion of the long arm of chromosome 11. (nih.gov)
• A female patient with an interstitial deletion of the long arm of chromosome 11 is described. (nih.gov)
• We report on two unrelated patients with a proximal deletion of the long arm of chromosome 21. (biomedsearch.com)
• Children with a deletion of a portion of the long arm of one of the two copies of chromosome 18 (18q) have numerous neurologic deficiencies ( 1 ), with a high incidence of dysmyelination of about 95%, as reported from MR imaging studies ( 2 ). (ajnr.org)
• Of The long arm of the 18th chromosome is missing. (healthtap.com)
• 25/30 cells examined contained an interstitial deletion of the long arm of chromosome 4, and 5/30 cells (16.7%) were found to contain a ring chromosome in addition to the deleted chromosome 4. (thefreelibrary.com)
• A partial long arm deletion of chromosome 7:46,XY,del(7)(q32). (bmj.com)
• BACKGROUND AND OBJECTIVES: Loss of heterozygosity (LOH) on the long arm of chromosome 7 (7q) has been frequently reported in several types of human cancer including hematologic malignancies. (haematologica.org)
• In fact, these deletions were crucial for mapping three different regions required for spermatogenesis in the long arm of the Y (Yq). (biomedcentral.com)
• If the break point on the long arm is at chromosome position 22q13.3, people with ring chromosome 22 will experience similar signs and symptoms as those with a simple deletion. (medlineplus.gov)
• These are usually divided into a "short arm" and a "long arm" of the chromosome. (rochester.edu)
• The long arm, which is the lower half of the chromosome, is the "q arm. (rochester.edu)
• 26 Deletion of Chromosome No. 18 (Long Arm). (nature.com)

Duplications1

• The researchers examined children with copy number variants (CNVs)--either deletions or duplications of DNA--at the genetic site 16p11.2. (eurekalert.org)

Tumors9

• Cells from both sources had interstitial deletions of 1p36.2-36.3 which overlapped the consensus region of LOH defined by the tumors. (pnas.org)
• Twenty chromosome 17p markers were used to localize the common region of deletion in these tumors to a region contained within bands 17p12 to 17p13.3. (sciencemag.org)
• these two tumors, like most colorectal carcinomas, had allelic deletions of chromosome 17p and expressed considerable amounts of p53 messenger RNA from the remaining allele. (sciencemag.org)
• Overall, 32 of 51 (63%) informative tumors showed loss of at least one locus on chromosome 8p. (aacrjournals.org)
• Evidence of chromosome 8q multiplication at locus D8S39 was detected in 5 of 32 (16%) tumors, all of which demonstrated loss with at least one probe on chromosome 8p. (aacrjournals.org)
• This specific change was not seen in five of five lung cancer cell lines other than small-cell lung cancer or in two lymphoblastoid lines cultured from cells of small-cell lung cancer patients whose tumors had the 3p deletion. (sciencemag.org)
• Allelic loss on chromosome 8p in at least one marker was found in 25/99 (25%) tumors. (uni-regensburg.de)
• In conclusion, we could show a close correlation of chromosome 8p deletions and progression of papillary bladder tumors. (uni-regensburg.de)
• Therefore, we conclude that predisposition of aniridia patients to develop Wilms' tumors is not due to a constitutional deletion of one of the c-Ha-ras1 alleles. (stanford.edu)

Abnormality5

• Chromosome 12 deletion is a chromosomal abnormality where part of chromosome 12 has been deleted. (patientslikeme.com)
• Deletion of the short arm of human chromosome 1 is the most common cytogenetic abnormality observed in neuroblastoma. (pnas.org)
• Children born with a DNA abnormality on chromosome 16 already linked to neurodevelopmental problems show measurable delays in processing sound and language, says a study team of radiologists and psychologists. (eurekalert.org)
• Five - 10 percent of males with unexplained fertility associated with azoospermia or oligozoospermia and/or abnormality of sperm morphology or motility have a chromosome abnormality. (uhhospitals.org)
• A specific, acquired chromosomal abnormality (deletion 3p) has been found in at least one chromosome 3 in 100 percent of the metaphases in 12 of 12 cell lines cultured from human small-cell lung cancer tissue and in 2-day tumor culture specimens from three patients. (sciencemag.org)

Piece of a chromosome2

• A very small piece of a chromosome can contain many different genes. (rochester.edu)
• If a chromosome or piece of a chromosome is missing or duplicated, there are missing or extra genes respectively. (blogspot.com)

Rearrangement5

• Unfortunately, these same characteristics make the LCRs difficult to reliably sequence and identify rearrangement breakpoints within the homologous chromosome 22 LCRs in individuals with 22q11DS. (drexel.edu)
• Additionally, the assessment of rearrangement recurrence by Y-lineage analysis indicated that while partial AZFc deletions occurred in highly diverse samples, haplotype diversity was minimal in fertile men sharing identical marker profiles. (biomedcentral.com)
• Complex chromosome rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a girl with sex reversal and mental retardation. (semanticscholar.org)
• A chromosome rearrangement is a structural change in a chromosome such as a deletion, translocation, inversion, or gene amplification. (encyclopedia.com)
• A chromosome rearrangement can delete or disrupt the functioning of genes that are located on the chromosomal pieces involved. (encyclopedia.com)

People with chromosome1

• Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. (wikipedia.org)

Partial11

• Chromosome 15q partial deletion is a rare human genetic disorder, caused by a chromosomal aberration in which the long ("q") arm of one copy of chromosome 15 is deleted, or partially deleted. (wikipedia.org)
• Chronic arthritis in two children with partial deletion of chromosome 18. (biomedsearch.com)
• We describe 2 children with a partial deletion of chromosome 18 and chronic arthritis. (biomedsearch.com)
• The amplicon content of partial AZFc deletion products was characterized with novel amplicon-specific sequence markers. (biomedcentral.com)
• Data indicate that partial AZFc deletions are a male infertility risk [odds ratio: 5.6 (95% CI: 1.6-30.1)] and although high diversity of partial deletion products and sequence conversion profiles were recorded, the AZFc marker profiles detected in fertile men were also observed in infertile men. (biomedcentral.com)
• Although partial AZFc deletion products are highly heterogeneous in terms of amplicon content, this plasticity is not sufficient to account for the observed phenotypical variance. (biomedcentral.com)
• Only 3 of these affect the whole region, 9 are partial deletions of this region, and 5 are much smaller deletions. (figshare.com)
• We analyzed the AZFc region of the Y-chromosome for complete (b2/b4) and distinct partial deletions (gr/gr, b1/b3, b2/b3) in 822 infertile and 225 proven fertile men. (diseaseinfosearch.org)
• We observed complete AZFc deletions in 0.97% and partial deletions in 6.20% of the cases. (diseaseinfosearch.org)
• However, the partial deletions of AZFc region related to spermatogenetic impairment are controversial. (diseaseinfosearch.org)
• I have a child with a 6q21 partial deletion, when we found out we braced ourselves for the worst but he is 6 now and doing SO well! (hope4katy.com)

Interstitial deletion3

• Interstitial deletion in the constitutional case was confirmed by allelic loss studies using the panel of polymorphic markers. (pnas.org)
• The deletion DNA sample utilized in the competition was isolated from a patient with a minute interstitial deletion in the short arm of the X chromosome. (pnas.org)
• Severe coagulation factor V deficiency associated with an interstitial deletion of chromosome 1q. (diseaseinfosearch.org)

Mouse chromosome3

• Amplification and deletion of mouse chromosome 4 in lung cancer. (cdc.gov)
• We have used molecular markers to order the breakpoints for 20 deletion alleles that span a 15.7-18-cM region of distal mouse chromosome 14. (genetics.org)
• Here, we describe a versatile procedure for chromosomal engineering that was used to generate an ES cell line with a megabase deletion encompassing the tumour suppressor gene neurofibromatosis-1 (Nf-1) on mouse chromosome 11, which is often deleted in tumours of neural crest origin. (nature.com)

Developmental4

• These chromosomal deletions represent an important resource for genetic studies to dissect the functional content of a genomic region, and several developmental defects have been associated with mice homozygous for distinct piebald deletion alleles. (genetics.org)
• Deletions identified as having breakpoints positioned within previously described critical regions have been used in complementation studies to further define the functional intervals associated with the developmental defects. (genetics.org)
• In previous studies we have characterized several developmental defects associated with three of the piebald deletion alleles. (genetics.org)
• 58 The deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene (608937), is associated with a highly penetrant form of isolated severe early-onset obesity as well as obesity with developmental delay (summary by Bachmann-Gagescu et al. (malacards.org)

Copies of chromosome3

• Two copies of chromosome 22, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
• The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 22. (medlineplus.gov)
• Further studies found that these patients inherit both copies of chromosome 15 from their mother, which is not typical. (encyclopedia.com)

Genetics1

• Genetics Home Reference (GHR) contains information on Chromosome 10q deletion. (nih.gov)

Occur5

• Sometimes a spontaneous break or breaks occur in a chromosome or chromosomes in a particular cell and can result in a deletion, inversion, or translocation. (encyclopedia.com)
• A cell becomes cancerous only after changes or deletions occur in a number of genes that are involved in the regulation of its cell cycle. (encyclopedia.com)
• Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. (medlineplus.gov)
• These 46 chromosomes occur as 23 pairs. (blogspot.com)
• A deletion can occur on any chromosome, at any band, and can be any size (large or small). (blogspot.com)

Genes on chromosome 113

• This study will explore conditions caused by the absence of certain genes on chromosome 11. (clinicaltrials.gov)
• This study will examine how the genes on chromosome 11 affect people and whether the absence of specific genes is associated with specific symptoms. (clinicaltrials.gov)
• It is unknown what causes the deletion of genes on chromosome 11, at a location designated chromosome 11q23. (bio-medicine.org)

Heterozygous3

• They carry a de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four of which, namely HRASLS5 , RARRES3 , HRASLS2 , and PLA2G16 , encode proteins that regulate cellular growth, differentiation, and apoptosis, mainly through Ras-mediated signaling pathways. (springer.com)
• In roughly 90% of affected individuals, a de novo heterozygous ~3 million base pair deletion occurs from an aberrant recombination mediated by low copy repeats (LCRs) in the chromosome 22q11.2 region. (drexel.edu)
• We showed that a single heterozygous 20q deletion consistently resulted in the complete loss of expression of the imprinted genes L3MBTL1 and SGK2, indicative of a pathogenetic role for loss of the active paternally inherited locus. (salford.ac.uk)

Size of the deletion2

• The size of the deletion varies among affected individuals. (medlineplus.gov)
• The exact size of the deletion varies among affected individuals, but it is thought to include at least 16 genes. (medlineplus.gov)

1p363

• A look at one of the most familiar case of chromosome aberration - 1p36 chromosome deletion - its signs and symptoms and some of its major clinical findings. (brighthub.com)
• In behavioral context, children with 1p36 deletions have poor social mechanisms commonly observed as temper tantrums, biting of hands and even the wrists. (brighthub.com)
• The homologous linkage groups on human chromosomes 9p21, 1p36 and 9q are altered in human lung adenocarcinoma. (cdc.gov)

Clinical4

• Sometimes we find rare chromosome anomalies, which clinical significance is not always known. (bmj.com)
• All patients had similar clinical features, with the exception of macrocephaly, which was detected in 24% of patients with the deletion and 60% of those with the point mutation, and congenital heart disease, which was limited to 35% of patients with the deletion. (uzh.ch)
• Finding the right clinical trial for Chromosome 1q Deletion can be challenging. (diseaseinfosearch.org)
• Y-chromosome deletions and male infertility: state of the art and clinical implications. (diseaseinfosearch.org)

Another chromosome2

• Healthy normal volunteers, people with isolated aniridia, and people with WAGR or another chromosome 11 gene deletion may be eligible for this study. (clinicaltrials.gov)
• When a piece of one chromosome is exchanged with a piece from another chromosome it is called a translocation. (encyclopedia.com)

Pair4

• The final pair of chromosomes, called the sex chromosomes, determine the sex of the individual. (encyclopedia.com)
• The last pair are called the sex chromosomes labeled X or Y. Females have two X chromosomes (XX), and males have an X and a Y chromosome (XY). (blogspot.com)
• When viewed under a microscope, chromosomes within the same pair appear identical because they contain the same genes. (encyclopedia.com)
• Chromosomes in the same pair contain the same genes. (encyclopedia.com)

Diagnosis2

• We were still in the early stages following diagnosis (shock, disbelief, denial) so we went to Fred Hutchinsons in Seattle and they told us do only do one--radiation OR chemo---and save one treatment for later---even considering the lack of deletions. (cancer.org)
• While they make sure to mention consulting a qualified clinician in all matters relating to genetic diagnosis, management and health, it has been our experience that very few, if any, doctors out there right now have much experience with chromosome 6 cases. (hope4katy.com)

Mutations5

• Large deletions covering as much as 11 cM have been identified that will be useful for regionally directed mutagenesis screens to reveal recessive mutations that disrupt development. (genetics.org)
• The authors examined 16 patients, including 8 patients with deletions of 6p involving 6p22.3 and 8 patients with mutations of the JARID2 gene. (chromodisorder.org)
• Dysmorphic features and anomalies of the skin occurred in patients with deletions more often than in patients with mutations. (chromodisorder.org)
• There were neither mutations in the coding region of sFRP1 nor homozygous deletions at 8p12-11.21. (uni-regensburg.de)
• For example, those with RAI1 mutations tend to be obese and are less likely to exhibit short stature, cardiac anomalies, hypotonia, hearing loss and motor delays than seen in patients with a deletion in chromosome 17. (arizona.edu)

Signs and symptoms1

• The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. (wikipedia.org)

Male infertility3

• Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses, and trial sequential analyses. (diseaseinfosearch.org)
• Deletions in the azoospermia factor regions are the most common known molecular genetic cause of human male infertility involving spermatogenetic failure. (diseaseinfosearch.org)
• The role of Y chromosome deletions in male infertility. (diseaseinfosearch.org)

Molecular5

• A molecular analysis of males found the wild-type PSR chromosome to be present in all somatic tissues. (nih.gov)
• Molecular evolutionary analysis of avian and primate sex chromosome sequence. (diva-portal.org)
• New molecular diagnostic kit to assess Y-chromosome deletions in the Japanese population. (diseaseinfosearch.org)
• These results demonstrate a link between an imprinted gene cluster and malignancy, reveal a new pathogenetic mechanism associated with acquired regions of genomic loss, and underline the complex molecular and cellular consequences of "simple" cancer-associated chromosome deletions. (salford.ac.uk)
• Cytogenetic analyses confirmed that the physical size of the deletions correlated well with the known molecular size deduced from the reference sequence. (inrae.fr)

Pairs of chromosomes3

• Each cell of the body, except for the egg and the sperm cells, contains 23 pairs of chromosomes and 46 chromosomes in total. (encyclopedia.com)
• Both males and females have 22 pairs of chromosomes, called the autosomes, that are numbered one to twenty-two in order of decreasing size. (encyclopedia.com)
• The other 22 pairs of chromosomes were normal (not shown). (blogspot.com)

Tumor7

• I've read in several posts on this site about the 1p19q chromosome deletions topic, and that several readers of this list have had this test, which I understand can be valuable prognostic tool and predict how a tumor responds to chemo. (cancer.org)
• SNP array analysis of case 2, a possible dysembryoplastic neuroepithelial tumor (DNT), revealed a 2.6 Mb deletion, which included the 5' end of BRAF and extended to the 3' end of FAM131B. (sigmaaldrich.com)
• The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals. (uni-wuerzburg.de)
• Deletions of chromosome 8p are frequently found in several tumor types and are often associated with progressive disease. (uni-regensburg.de)
• There was a significant correlation of 8p deletions with invasive tumor growth and a highly significant association with papillary growth pattern in patients with invasive disease. (uni-regensburg.de)
• The sFRP1 gene on chromosome 8p12-11.1 could be a candidate gene for the predicted, progression-related tumor suppressor gene in bladder cancer and could contribute to urothelial carcinogenesis. (uni-regensburg.de)
• Localization of the oncogene c-Ha-ras1 outside the aniridia-Wilms' tumor-associated deletion of chromosome 11(del 11p13) using somatic cell hybrids. (stanford.edu)

Children with the deletion3

• In children with the deletion, the researchers found a significant delay: 23 milliseconds (ms), a figure that Roberts called "stunningly high" compared to the healthy children. (eurekalert.org)
• RESULTS:Analyses revealed four common clusters, in the parietal and frontal lobes, that showed complementary patterns of connectivity in children with the deletion and typical controls. (escholarship.org)
• Here, we demonstrate that, in addition to the global cerebellum reductions previously reported, volumetric reductions of the anterior lobule and the vermal region of the neo-cerebellum in the mid-sagittal plane best differentiate children with the deletion from typically developing children. (elsevier.com)

Gene deletions1

• The disagreement with the deletions was this: OHSU feels that the lack of the gene deletions are a definite prognostic factor for David, and he was diagnosed from the beginning with a grade 3,not a grade 2. (cancer.org)

Small deletions1

• These include 19p13.13 deletions (described above) and small deletions in other regions of the chromosome. (medlineplus.gov)

Mosaicism2

• The results show that deletions can result in mosaicism due to increased mitotic instability of PSR. (nih.gov)
• There is usually a mixture of cells (mosaicism), some with extra #12 material, and some that are normal (46 chromosomes without the extra #12 material). (rochester.edu)

Cytogenetic1

• A cytogenetic assay of testes revealed that wild-type PSR males contained the chromosome in 98%-100% of their spermatocytes. (nih.gov)

Azoospermia1

• The frequencies of AZF deletions in patients with azoospermia and severe oligozoospermia amounted to 12.2 and 8.1%, respectively. (deepdyve.com)

Region of deletion2

• The minimal region of deletion occurred at 39.6 centimorgans (cM). (cdc.gov)
• The region of deletion was approximately 22 Mb at 4q11q13.3 with a complementary ring chromosome identified by G-banding and FISH in 9 out of 13 cells. (thefreelibrary.com)

Certain genes on chromosome1

• This mutation prevents certain genes on chromosome 15 from working properly. (encyclopedia.com)

Patients4

• Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). (chromodisorder.org)
• A method that allows the specific cloning of DNA fragments absent from patients homozygous or hemizygous for chromosomal deletions is described. (pnas.org)
• Patients with similar-sized deletions of this region (but without a complementary ring chromosome) have been reported with moderate to severe mental retardation, minor facial anomalies, and growth retardation . (thefreelibrary.com)
• According to the literature, deletions in this chromosomal region larger than 300 kb was described in patients with mental retardation and multiple malformations including conductive deafness. (bmj.com)

Allelic1

• Four proposed candidate genes--DAN, ID3 (heir-1), CDC2L1 (p58), and TNFR2--were shown to lie outside of the consensus region of allelic loss, as defined by the above deletions. (pnas.org)