Interstitial deletion. Medical search. Frequent questions

Chromosomal deletion syndromes result from deletion of parts of chromosomes. (wikipedia.org)
Chromosomal deletion syndromes typically involve larger deletions that are visible using karyotyping techniques. (wikipedia.org)
Smaller deletions result in Microdeletion syndrome, which are detected using fluorescence in situ hybridization (FISH) Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader-Willi syndrome, and Angelman syndrome. (wikipedia.org)
[ 1 ] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)

Interstitial deletions of the distal 7q region are considered a rare entity. (hindawi.com)
Terminal deletions at the long arm of chromosome 7 have been described more frequently in the medical literature [ 1 , 2 ] compared to interstitial deletions at the distal 7q region. (hindawi.com)
Among distal 7q interstitial deletions, the involvement of the 7q36.1 and 7q36.2 has only been evaluated by cytogenetic techniques in a few reports [ 4 - 7 ]. (hindawi.com)
A specific distal 7q interstitial deletion syndrome has not been proposed because of the rarity of these deletions and the various breakpoints described in prior studies. (hindawi.com)
Interstitial deletion of distal 13q associated with Hirschsprung's disease. (bmj.com)
Their proximal and distal breaks, at D15S541 or D15S9 and between D15S12 and D15S24, respectively, were comparable to those found in the common AS/PWS deletions. (nih.gov)
Terminal 6q deletions are a variable group of chromosome disorders, with the largest deletions extending from 6q25.2 to 6qter (up to 16 Mb in size) and the smallest deletions restricted to the most distal band 6q27 (as small as 390 kb in size) [ 1 ]. (biomedcentral.com)
Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)

With an incidence of 1 in 15,000 to 1 in 50,000 live births, it is suggested to be one of the most common contiguous gene deletion disorders. (wikipedia.org)
The mitochondria in the hearts of mice with FUNDC1 gene deletion were larger and more elongated, a 2.5-fold increase of size compared to mitochondria in the control mice . (medicalxpress.com)

The chromosomal basis of Cri du chat syndrome consists of a deletion of the most terminal portion of the short arm of chromosome 5. (wikipedia.org)
The chromosomal basis of Wolf-Hirschhorn syndrome (WHS) consists of a deletion of the most terminal portion of the short arm of chromosome 4. (wikipedia.org)
Prader-Willi (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. (wikipedia.org)
2 , 3 ] Similarly, children with chromosome 13q14 deletion syndrome, characterized by dysmorphic facial features, have increased risk of retinoblastoma. (plos.org)
2q37 deletion syndrome is a condition that can affect many parts of the body. (medlineplus.gov)
Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. (medlineplus.gov)
Unusual physical features are also common in people with 2q37 deletion syndrome. (medlineplus.gov)
Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. (medlineplus.gov)
A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumor . (medlineplus.gov)
2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. (medlineplus.gov)
Researchers are working to identify all of the genes whose loss contributes to the features of 2q37 deletion syndrome. (medlineplus.gov)
While the deleted segment in 2q37 deletion syndrome varies in size, it always contains the HDAC4 gene. (medlineplus.gov)
Additionally, a few people with mutations in only the HDAC4 gene have many of the features of 2q37 deletion syndrome. (medlineplus.gov)
Most cases of 2q37 deletion syndrome are not inherited. (medlineplus.gov)
Transgenic mice carrying 16p11.2 deletion ( 16p11 +/− ) display phenotypes reminiscent of those in human patients with 16p11.2 deletion syndrome, but the molecular mechanisms and treatment strategies for these phenotypes remain unknown. (jneurosci.org)
These results suggest that NMDAR hypofunction in PFC may contribute to the pathophysiology of 16p11.2 deletion syndrome and that restoring PFC activity is sufficient to rescue the behavioral deficits. (jneurosci.org)
SIGNIFICANCE STATEMENT The 16p11.2 deletion syndrome is strongly associated with autism spectrum disorder and intellectual disability. (jneurosci.org)
These results have revealed a novel route for potential therapeutic intervention of 16p11.2 deletion syndrome. (jneurosci.org)
Ten cases with known cryptic aberrations were selected (seven cases with subtelomeric rearrangements, one case with an interstitial deletion and two cases with microdeletion syndromes: one case with DiGeorge syndrome and one case with a microdeletion of 17p11 (Smith Magenis syndrome) in 60% of the lymphocytes). (bmj.com)
We report a case of a 10-year-old boy with ID and GDD who was diagnosed with Cabezas syndrome, a rare genetic disorder caused by a deletion of the CUL4B gene. (bvsalud.org)
Em2007, a porcine reproductive and respiratory syndrome virus (PRRSV) variant with a unique 68 aa deletion in Nsp2, was recently isolated in China. (cdc.gov)
The former Pitt-Rogers-Danks syndromes, caused by overlapping 4p deletions, are now considered to be a part of Wolf-Hirschhorn syndrome. (medscape.com)
Three different categories of the Wolf-Hirschhorn syndrome phenotype are defined and generally correlate with the extent of the 4p deletion. (medscape.com)
The second and far more frequent category is identified by large deletions that average 5-18 Mb and cause the widely recognizable Wolf-Hirschhorn syndrome phenotype. (medscape.com)
The third clinical category results from a very large deletion that exceeds 22-25 Mb, causing a severe phenotype that can hardly be defined as typical Wolf-Hirschhorn syndrome. (medscape.com)
Prenatal mortality rate of Wolf-Hirschhorn syndrome is not significantly augmented because 4p deletions are not reported as an increase in spontaneous abortions. (medscape.com)

In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. (hindawi.com)
Patients with terminal deletions often have severe phenotypic features including sacral agenesis and holoprosencephaly [ 2 , 3 ], whereas, the above mentioned interstitial deletions have characteristic dysmorphic facial features, intellectual disability, and language impairment which will be further described in this report. (hindawi.com)

The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. (hindawi.com)
The aim of this case report is to further understand the phenotypic features associated with interstitial deletions at the long arm of chromosome 7 and offer a basis for the development of a possible syndromic profile for these deletions in the future. (hindawi.com)
Interstitial microdeletions in the proximal region of the long arm of chromosome 6 are rare. (irdrjournal.com)
It predominantly presents as monosomy 7 or deletion of the long arm of chromosome 7, often associated with an unfavorable prognosis. (atlasgeneticsoncology.org)

The proximal boundary of the WHSCR was defined by a 1.9 megabase terminal deletion of 4p16.3. (wikipedia.org)
Deletions of the short arm of chromosome 7, originated from either a terminal or an interstitial deletion are less frequent and their pathological significance is less well characterized. (atlasgeneticsoncology.org)
Represents as interstitial (9 cases) or terminal deletion (18 patients) with various breakpoints. (atlasgeneticsoncology.org)
Pulsed-field gel electrophoresis and reverse chromosome painting showed that one case arose from an interstitial or terminal deletion and two from the de novo inheritance of derivative translocation chromosomes. (nih.gov)
Terminal 6q deletions are rare, and the number of well-defined published cases is limited. (biomedcentral.com)
Here, we report our findings on 93 individuals with terminal 6q deletions and 11 individuals with interstitial 6q26q27 deletions, a cohort that includes 38 newly identified individuals. (biomedcentral.com)
Terminal 6q deletions cause a common but highly variable phenotype. (biomedcentral.com)
Based on our findings, we provide recommendations for clinical follow-up and surveillance of individuals with terminal 6q deletions. (biomedcentral.com)
To date, two large reviews on terminal 6q deletions have been published. (biomedcentral.com)
These individuals were diagnosed by conventional cytogenetic methods, and interstitial deletions including only the proximal part of 6q27 were also considered to be terminal. (biomedcentral.com)
3 ] described another 28 individuals with pure terminal 6q deletions diagnosed by conventional cytogenetic methods or array CGH, with all findings confirmed by FISH. (biomedcentral.com)
Deletion of the terminal band (4p16.3) is essential for full expression of the phenotype. (medscape.com)

Several mutations in the OCRL gene have been described, including truncation mutations, missense mutations, and large deletions. (medscape.com)

This suggests that duplications and deletions may be the reciprocal product of an unequal recombination event. (nih.gov)

Truncating RAD21 variants are shown above, and missense mutations and in-frame deletions are shown below the protein representation. (springer.com)

De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global" by D. Keselman, R. Singh et al. (hofstra.edu)
De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay. (hofstra.edu)
The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. (hofstra.edu)
70% of patients present a 5-7-Mb de novo deletion in the proximal region of the paternal chromosome 15. (wikipedia.org)

Approximately 70% have an interstitial deletion or other abnormal finding on chromosome 15, using high resolution (prometaphase) analysis. (hoagiesgifted.org)

The deletions occur near the end of the chromosome at a location designated 2q37. (medlineplus.gov)

To confirm the clinical significance of these deletions, genotype-phenotype correlation analysis was performed using genetic and predicted loss-of-function data. (irdrjournal.com)
The researchers used mouse neonatal cardiomyocytes, mice with a genetic deletion of the FUNDC1 gene, control mice with no genetic deficiencies and the cardiac tissues of patients with heart failure. (medicalxpress.com)
Mice with the genetic deletion of FUNDC1 had markedly reduced ventricular filling velocities, prolonged left ventricular isovolumic relaxation time, diastolic dysfunction, decreased cardiac output (which indicates impaired systolic functions) and interstitial fibrosis of the myocardium, among other issues. (medicalxpress.com)

We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population. (hindawi.com)
A large deletion several megabases (Mb) in length, easily detected using conventional chromosome analysis, is usually associated with severe phenotypic expression, including multiple malformations. (medscape.com)

Herein we have reported 12 patients with developmental delays associated with interstitial microdeletions in 6q ranging from q12 to q22. (irdrjournal.com)
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. (medlineplus.gov)

Mesenchymal cells in the lung are crucial during development, but also contribute to the pathogenesis of fibrotic disorders, including idiopathic pulmonary fibrosis (IPF), the most common and deadly form of fibrotic interstitial lung diseases. (researchgate.net)
Variable amount of tubular atrophy and interstitial fibrosis depending on the point in the natural history of the condition that the biopsy is performed. (medscape.com)

We report on a 2-year-old boy in whom array comparative genomic hybridization analysis revealed an interstitial 314 kb deletion in Xq26.3 affecting SLC9A6 and FHL1. (mpg.de)
Array comparative genomic hybridization in patient one and patient two revealed copy-number variant (CNV) deletions, respectively, ~ 1.45 Mb in size involving FOXF1 and an ~ 0.7 Mb in size involving FOXF1 enhancer and leaving FOXF1 intact. (researchgate.net)
Genomic analysis showed that nearly all of the emerging highly pathogenic PRRSVs isolated from this outbreak share a unique discontinuous deletion of 30 aa in Nsp2 ( 7 - 10 ). (cdc.gov)

This is also the first patient with a deletion affecting both SLC9A6 and the complete FHL1 gene. (mpg.de)

Small series suggest mycophenolate mofetil (MMF) is well tolerated and may be an effective therapy for connective tissue disease-associated interstitial lung disease (CTD-ILD). (jrheum.org)
The interstitial lung diseases (ILD) are a group of diffuse parenchymal lung disorders associated with substantial morbidity and mortality. (jrheum.org)

Its deletion likely contributes to the WHS phenotype. (wikipedia.org)
As these deletions are rare, there is only limited information about their effect on the clinical phenotype. (biomedcentral.com)
The first is composed of a small deletion (≤3.5 Mb) that is usually associated with a mild phenotype, lacking major malformations. (medscape.com)

The phenotypes were comparable up to a deletion size of 7.1 Mb, and most features could be attributed to the terminally located gene DLL1 . (biomedcentral.com)

Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. (medscape.com)

Deletion of 7p, appears to confer increased risk of treatment failure and inferior outcome, same as it observed with monosomy 7 in myeloid malignancies. (atlasgeneticsoncology.org)

There is no specific correlation found between size of deletion and severity of clinical features because the results vary so widely. (wikipedia.org)

Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. (bmj.com)

In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease. (bmj.com)

The horizontal black line represents the inframe deletion p. (springer.com)

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. (mpg.de)

One of them consists in micro-deletions of the chromosome region 15q11-q13. (wikipedia.org)

Deletion of 7p as the sole abnormality occurs in disorders with myelodysplastic or myeloproliferative features and acute lymphoblastic leukemia, and may therefore affect early hematopoietic progenitor cells. (atlasgeneticsoncology.org)

Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. (wikipedia.org)

Interstitial deletions of chromosome band Xq26.3 are rare. (mpg.de)

the chromosomal basis generally consists of a deletion on the short arm of chromosome 5. (wikipedia.org)

Anatomy56

Organisms13

Diseases49

Chemicals and Drugs36

Analytical, Diagnostic and Therapeutic Techniques and Equipment41

Psychiatry and Psychology2

Phenomena and Processes90

Disciplines and Occupations1

Information Science4

Named Groups1

Health Care2

Chromosomal deletion4

Distal8

Gene Deletion2

Syndrome26

Dysmorphic facial features2

Long arm of chromosome4

Terminal12

Large deletions1

Duplications1

Missense mutations1

Novo4

Chromosome 151

Occur1

Genetic3

Phenotypic2

Patients2

Fibrosis2

Genomic3

Patient1

Lung2

Phenotype3

Phenotypes1

Occurrence1

Monosomy1

Correlation1

Cases1

Clinical features1

Represents1

Report1

Region1

Features1

Size1

Rare1

Short1