34 results match your criteria deletions 1q25

Detection of deletions in 1q25, 1p36 and 1pTEL and chromosome 17 aneuploidy in oral epithelial dysplasia and oral squamous cell carcinoma by fluorescence in situ hybridization (FISH).

Oral Oncol 2021 Feb 17;116:105221. Epub 2021 Feb 17.

Department of Oral Pathology, University of Fortaleza / Universidade de Fortaleza, School of Dentistry, Fortaleza, Brazil.

Objective: To identify chromosome deletions in 1q25, 1p36 and 1pTEL, and chromosome 17 ploidy status in oral epithelial dysplasia (OED) and oral squamous cell carcinoma (OSCC).

Material And Methods: Samples from 57 OED and 63 OSCC were selected. FISH was performed using centromeric probes 17 and n LSIR 1p36/LSI 1q25 Dual Color Probe. Read More

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February 2021

Prospective validation of a molecular prognostication panel for clival chordoma.

J Neurosurg 2018 Jun 1:1-10. Epub 2018 Jun 1.

1Department of Neurosurgery, University of Pittsburgh Medical Center, Pittsburgh.

OBJECTIVEThere are currently no reliable means to predict the wide variability in behavior of clival chordoma so as to guide clinical decision-making and patient education. Furthermore, there is no method of predicting a tumor's response to radiation therapy.METHODSA molecular prognostication panel, consisting of fluorescence in situ hybridization (FISH) of the chromosomal loci 1p36 and 9p21, as well as immunohistochemistry for Ki-67, was prospectively evaluated in 105 clival chordoma samples from November 2007 to April 2016. Read More

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Role of CDKN2C Fluorescence In Situ Hybridization in the Management of Medullary Thyroid Carcinoma.

Ann Clin Lab Sci 2017 Sep;47(5):523-528

School of Health Professions Program in Diagnostic Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

Medullary thyroid carcinoma (MTC), an aggressive form of thyroid cancer, occurs sporadically in approximately 75% of MTCs. and mutations play a role in about 40% and 15%, respectively, of sporadic MTCs and are predominant drivers in MTC pathways. These mutations are some of the most comprehensively described and screened for in MTC patients; however, in recent studies, other mutations in the gene (p18) have been implicated in the tumorigenesis of MTC. Read More

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September 2017

[Application of single nucleotide polymorphism-microarray and target gene sequencing in the study of genetic etiology of children with unexplained intellectual disability or developmental delay].

Zhonghua Er Ke Za Zhi 2016 Oct;54(10):740-745

*Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing 100020, China.

To evaluate the application of single nucleotide polymorphism (SNP)-microarray and target gene sequencing technology in the clinical molecular genetic diagnosis of unexplained intellectual disability(ID) or developmental delay (DD). Patients with ID or DD were recruited in the Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics between September 2015 and February 2016. The intellectual assessment of the patients was performed using 0-6-year-old pediatric examination table of neuropsychological development or Wechsler intelligence scale (>6 years). Read More

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October 2016

Nine year old boy with chromosome 1q23.3-q25.1 deletion.

Am J Med Genet A 2016 11 15;170(11):3013-3017. Epub 2016 Jul 15.

Genetics Division, Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada.

Interstitial deletions of the long arm of chromosome 1 are rare, and recent reports of individuals with molecularly characterized deletions have resulted in advances in genotype-phenotype correlation. The recognizable phenotype associated with 1q23.3-q25. Read More

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November 2016

Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.

Birth Defects Res A Clin Mol Teratol 2016 Jan 17;106(1):16-26. Epub 2015 Dec 17.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

Background: For the majority of congenital brain malformations, the underlying cause remains unknown. Recent studies have implicated rare copy number variations (CNVs) in their etiology.

Methods: Here, we used array-based molecular karyotyping to search for causative CNVs in 33 fetuses of terminated pregnancies with prenatally detected brain malformations and additional extracerebral anomalies. Read More

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January 2016

Prognostic significance of relative 1p/19q codeletion in oligodendroglial tumors.

J Neurooncol 2015 Nov 4;125(2):249-51. Epub 2015 Sep 4.

Department of Pathology-Neuropathology, Stanford University, Palo Alto, CA, USA.

1p/19q codeletion is a favorable prognostic marker for oligodendroglial tumors (OT). Compare outcome in OT with simple deletions of 1p or 19q to those with relative deletions defined as the presence of both increased copy number (polysomy) and 1p/19q codeletion. 525 cases were examined by fluorescence in situ hybridization (FISH) using dual color probes to determine the deletion status of chromosome arms 1p and 19q. Read More

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November 2015

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.

Clin Med Insights Pediatr 2014 17;8:45-9. Epub 2014 Sep 17.

Foundation for Research in Genetics and Endocrinology's Institute of Human Genetics, FRIGE House, Ahmedabad, India.

Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Array comparative genomic hybridization (aCGH) analysis confirmed partial deletion of 11. Read More

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October 2014

Fluorescence in situ hybridization for 1p, 19q status in a cohort of glial neoplasms.

Neurol India 2014 Jan-Feb;62(1):32-6

Section of Neuropathology, Departments of Neurological Sciences and Pathology, Section of Neurosurgery, Christian Medical College, Vellore, Tamil Nadu, India.

Objective: The objective of the following study is to determine 1p, 19q status in a cohort of glial neoplasms. materials and methods: Fluorescence in situ hybridization for determination of 1p, 19q deletions in 100 glial neoplasms diagnosed between January 2007 and March 2011, was performed using Vysis dual color probes localizing to 1p36/1q25; 19q13/19p13.

Results: Out of the 100 tumors, 78 tumors were either pure oligodendroglial (OD) neoplasms or had an OD component. Read More

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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. Read More

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Amylase α-1A (AMY1A): a novel immunohistochemical marker to differentiate chromophobe renal cell carcinoma from benign oncocytoma.

Am J Surg Pathol 2013 Dec;37(12):1824-30

*Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA †Department of Pathology, East Carolina University, Greenville, NC.

Chromophobe renal cell carcinoma (ChRCC) and oncocytoma present with a perplexing overlap of morphologic and immunohistochemical features. ChRCC have deletions in the 1p21.1 region including the amylase α-1A gene (AMY1A). Read More

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December 2013

Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women.

Arthritis Rheum 2013 Apr;65(4):1055-63

Catholic University of Korea, and Department of Rheumatology, Hanyang University Hospital of Rheumatic Diseases, Haengdang-dong, Seongdong-gu, Seoul, Republic of Korea.

Objective: Several copy number variations (CNVs) have been found to be associated with systemic lupus erythematosus (SLE) through the target gene approach. However, genome-wide features of CNVs and their role in the risk of SLE remain unknown. The aim of this study was to identify SLE-associated CNVs in Korean women. Read More

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New genetic findings in parotid gland pleomorphic adenomas.

Head Neck 2013 Oct 18;35(10):1431-8. Epub 2012 Sep 18.

Department of Otorhinolaryngology, Saarland University Medical Center, Homburg/Saar, Germany.

Background: Despite numerous studies, the tumor biology of pleomorphic adenomas, the most common salivary gland tumors, is still not completely defined. In order to identify further candidate genes important for tumor biology of pleomorphic adenomas, extended cytogenetic and molecular analysis are mandatory.

Methods: We performed a detailed molecular cytogenetic analysis using comparative genomic hybridization (CGH) followed by fluorescence in situ hybridization (FISH) with probes for chromosome X, 16p, 17, and 20 on a large cohort of pleomorphic adenomas (n = 29). Read More

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October 2013

A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia.

Eur J Med Genet 2011 Jul-Aug;54(4):e394-8. Epub 2011 Apr 3.

Department of Pathology, University of Texas Medical Branch, Galveston, TX 78229, USA.

Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Read More

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October 2011

Molecular cytogenetic analysis of Korean patients with Waldenström macroglobulinemia.

Cancer Genet Cytogenet 2010 Mar;197(2):117-21

Seoul National University Bundang Hospital, 300 Gumi-dong, Bundang-gu, Seongnam-si, Gyeongi-do, 463-707, Korea.

To compare the molecular cytogenetic characteristics between Waldenström macroglobulinemia (WM) and multiple myeloma (MM), we performed interphase fluorescent in situ hybridization (FISH) in Korean patients with WM and MM. Forty patients with WM and 132 patients with MM were enrolled onto the study. FISH was performed with seven different probes: 6q21, 6q23, CEP4, CEP9, immunoglobulin (IgH) breakapart, RB1 gene, and 1q25. Read More

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Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

Eur J Med Genet 2009 Nov-Dec;52(6):393-7. Epub 2009 Sep 17.

Center for Human Genetics, University of Leuven, Leuven, Belgium.

In 1991, a large family was described with an autosomal dominant inheritance of otological and branchial manifestations which was termed branchio-otic syndrome type 2 (BOS2). This trait was mapped by linkage analysis in this family to a region of 23-31 Mb on chromosome 1q25.1q32. Read More

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February 2010

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array.

Genes Chromosomes Cancer 2009 Oct;48(10):897-907

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

Neurofibromatosis Type I (NF1) is an autosomal dominant disorder characterized by the development of both benign and malignant tumors. The lifetime risk for developing a malignant peripheral nerve sheath tumor (MPNST) in NF1 patients is approximately 10% with poor survival rates. To date, the molecular basis of MPNST development remains unclear. Read More

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October 2009

A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.

Cytogenet Genome Res 2009 15;124(1):94-101. Epub 2009 Apr 15.

Faculty of Health, School of Biomedical Sciences, University of Newcastle and the Hunter Medical Research Institute, Newcastle, NSW, Australia.

Children with intellectual disability, dysmorphic features, malformations and/or growth abnormalities frequently display normal karyotypes. Recent studies have shown that genome-wide single nucleotide polymorphism (SNP) arrays can be effective in detecting abnormalities involving copy number variation (CNV), deletions, duplications and loss of heterozygosity (LOH) that routine cytogenetic tests fail to identify. Five patients with various degrees of intellectual disability and/or dysmorphic features and other malformations were whole-genome genotyped using the Human-1 Genotyping BeadChip--Exon-Centrix 100K SNP arrays (Illumina). Read More

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Long-Term Survival of a Patient with Giant Cell Glioblastoma: Case Report and Review of the Literature.

Case Rep Oncol 2009 Jul 17;2(2):103-110. Epub 2009 Jul 17.

Department of Neurosurgery, University Hospital St. Ivan Rilski, Sofia, Bulgaria.

Glioblastoma multiforme (GBM) is the most common glial tumor of the central nervous system. Overall survival is less than a year in most of the cases in spite of multimodal treatment approaches. A 45-year-old female with histologically confirmed giant cell GBM was treated at our institution. Read More

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Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.

Am J Med Genet A 2008 Nov;146A(22):2937-43

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.

Here we report on a patient with an interstitial deletion on the long(q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E, Müllerian agenesis, growth hormone deficiency, as well as other abnormalities. We present the clinical details of this patient's presentation, the skeletal findings, and provide characterization of the deletion at the molecular level. We postulate that these skeletal anomalies are distinctive to 1q deletions involving the 1q24q25 region. Read More

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November 2008

Chromosome 1p and 19q deletions in malignant glioneuronal tumors with oligodendroglioma-like component.

J Neurooncol 2009 Jan 10;91(1):33-8. Epub 2008 Sep 10.

Department of Neurosurgery, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji, Fukui, 910-1193, Japan.

Malignant glioneuronal tumors (MGNT) are suggested to be a new entity of glioma defined morphologically as any malignant glioma showing immunohistoichemical evidence of neuronal differentiation. We encountered seven cases of MGNT with oligodendroglioma-like component and investigated alternations of chromosome 1p and 19q in these tumors. Seven patients ranged from 33 to 62 years of age, four females and three males. Read More

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January 2009

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).

Eur J Med Genet 2007 Nov-Dec;50(6):455-64. Epub 2007 Jul 20.

Laboratoire de Cytogénétique, Département de Génétique, CHU Le Bocage, 2 Bd Maréchal de Lattre de Tassigny, 21034 Dijon cédex, France.

We report on a 26-year-old patient presenting with extremely short stature (height 72cm, weight 6.5kg, OFC 42.5cm), facial dysmorphism, cleft lip--palate, severe mental retardation and de novo 1q24. Read More

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Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.

Am J Med Genet A 2007 Jun;143A(11):1191-7

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, and Department of Pediatrics, Tokyo Teishin Hospital, Tokyo, Japan.

We report on a 2-year-old Japanese girl with Cornelia-de Lange syndrome (CdLS) who had mental and growth retardation, together with characteristic facial anomalies and mild extremity malformations. She had a balanced chromosomal translocation, 46,XX,t(5;13)(p13.1;q12. Read More

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Molecular cytogenetic characterization of human papillomavirus16-transformed foreskin keratinocyte cell line 16-MT.

Cancer Genet Cytogenet 2006 Jul;168(1):36-43

Department of Community Health Systems, University of California, San Francisco, Room N505, Box 0608 San Francisco, CA 94143-0608, USA.

Anogenital cancers are closely associated with human papillomavirus (HPV), and HPV-infected individuals, particularly those with high-grade dysplasias, are at increased risk for cervical and anal cancers. Although genomic instability has been documented in HPV-infected keratinocytes, the full spectrum of genetic changes in HPV-associated lesions has not been fully defined. To address this, we examined an HPV16-transformed foreskin keratinocyte cell line, 16-MT, by GTG-banding, spectral karyotyping (SKY), and array comparative genomic hybridization (array CGH); these analyses revealed multiple numerical, complex, and cryptic chromosome rearrangements. Read More

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Diagnostic and prognostic significance of genetic regional heterogeneity in meningiomas.

Neuro Oncol 2004 Oct;6(4):290-9

Neuro-Oncology Research and Neurosurgery Research Laboratory, Barrow Neurological Institute of St. Joseph's Hospital and Medical Center, Phoenix, AZ 85013, USA.

We analyzed the frequency and regional distribution of cells with genetic abnormalities of chromosomes 1, 14, and 22 in meningiomas. This data was evaluated for correlation to the clinical outcome of the patients. Eight defined areas of each of 77 paraffin-embedded meningioma samples (59 grade I, 13 grade II, and 5 grade III) were analyzed by fluorescent in situ hybridization using bacterial artificial chromosome probes localized to chromosomes 1p36. Read More

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October 2004

Genome-wide array comparative genomic hybridization analysis reveals distinct amplifications in osteosarcoma.

BMC Cancer 2004 Aug 7;4:45. Epub 2004 Aug 7.

Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX, USA.

Background: Osteosarcoma is a highly malignant bone neoplasm of children and young adults. It is characterized by extremely complex karyotypes and high frequency of chromosomal amplifications. Currently, only the histological response (degree of necrosis) to therapy represent gold standard for predicting the outcome in a patient with non-metastatic osteosarcoma at the time of definitive surgery. Read More

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Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations.

Am J Med Genet A 2003 Dec;123A(3):290-5

Department of Pediatrics, University of Helsinki, Helsinki, Finland.

We describe a 4-year-old boy with an accessory right thumb, short and broad toes, cryptorchidism, micrognathia, abnormally modeled ears, and delayed speech development. The chromosome analysis of patient's peripheral blood lymphocytes by conventional GTG banding demonstrated a small deletion in the long arm of chromosome 1. Confirmation and defined localization of the deleted segment to chromosomal bands 1q25. Read More

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December 2003

Cytogenetic characterization of diffuse large cell lymphoma using multi-color fluorescence in situ hybridization.

Cancer Genet Cytogenet 2002 Jan;132(2):125-32

Human Genetics Laboratories, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, 985440 Nebraska Medical Center, Omaha, NE, USA.

We have employed multi-color fluorescence in situ hybridization (M-FISH) to characterize the cytogenetic changes in 20 diffuse large B-cell lymphomas (DLBCL), that contained complex and partially characterized karyotypes. The M-FISH analysis helped to delineate 94% of the unidentified abnormalities and assisted in redefining some unidentified/misidentified karyotypic changes. Recurrent breakpoints observed in approximately 20% cases included 14q32, 3p21, 3q27, 22q12, 1q25, and 18q21 (in decreasing order), and 1p22, 1q21, 4q31, 6q21, and 8q24 (in four cases each). Read More

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January 2002

Characterization of chromosome 1 abnormalities in malignant melanomas.

Genes Chromosomes Cancer 2000 May;28(1):121-5

Molecular Carcinogenesis, Institute of Cancer Research, Sutton, Surrey, United Kingdom.

Chromosome 1 abnormalities are the most commonly detected aberrations in many cancers including malignant melanomas. Specific breakpoints are reported for malignant melanomas throughout the chromosome but especially at 1p36 and at several sites throughout 1p22-q21. In addition, partial deletions and loss of heterozygosity have been found on 1p indicating the possible location of tumor suppressor genes. Read More

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Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.

Am J Med Genet 1999 Nov;87(1):17-22

Cytogenetics Department, Quest Diagnostics Inc., San Juan Capistrano, California.

Interstitial deletions in the terminal region of chromosome 6 are rare. We describe three new cases with subtle interstitial deletions in the q24-q26 region of the long arm of chromosome 6. The karyotypes were analyzed at a 550 band level. Read More

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November 1999