7 results match your criteria 1ptel chromosome

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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

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.

Br J Ophthalmol 2005 Jul;89(7):831-4

Genome analysis team, International Agency for Research on Cancer, Lyons, France.

Aims: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract.

Methods: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Read More

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Detailed FISH analysis of day 5 human embryos reveals the mechanisms leading to mosaic aneuploidy.

Hum Reprod 2005 Jan 26;20(1):129-37. Epub 2004 Nov 26.

UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, 86-96 Chenies Mews, London, WC1E 6HX, UK.

Background: Fluorescence in situ hybridization (FISH) analysis has shown that human embryos display a high level of chromosomal mosaicism at all preimplantation stages. The aim of this study was to investigate the mechanisms involved by the use of two probes for each of three autosomes at different loci and to determine the true level of aneuploid mosaicism by excluding FISH artefacts.

Methods: Embryos were cultured in two different types of medium: group I were cultured in standard cleavage medium for up to day 5 and group II were cultured from day 3 to day 5 in blastocyst medium. Read More

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January 2005

Prenatal diagnosis of a fetus affected with Down syndrome and deletion 1p36 syndrome by fluorescence in situ hybridization and spectral karyotyping.

Fetal Diagn Ther 2004 Jul-Aug;19(4):356-60

Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.

Objective: A fetus having partial trisomy of the distal part of chromosome 21q due to a de novo translocation is reported here.

Method: A 29-year-old woman received amniocentesis at 18 weeks of gestation because of abnormal ultrasound findings including bilateral choroid plexus cysts, atrioventricular septal defects, rocker-bottom feet, and possible hydrocephalus.

Results: Cytogenetic analysis revealed 46,XY, add(1)(p36. Read More

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January 2005

Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatids.

Am J Med Genet A 2003 Mar;117A(3):261-7

Quest Diagnostics, Inc., San Juan Capistrano, California, USA.

In this study, we report two cases each with a complex chromosome rearrangement concealing a submicroscopic terminal deletion. The first case had a mos 46,XX,der(1)t(1;9)(p36.3;p13). Read More

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Clinical categories of neuroblastoma are associated with different patterns of loss of heterozygosity on chromosome arm 1p.

J Mol Diagn 2000 Feb;2(1):37-46

Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA.

Deletion of the short arm of chromosome 1 is frequently observed in neuroblastoma (NB). We performed loss of heterozygosity (LOH) analysis of 120 well characterized NB to better define specific regions of 1p loss and any association with clinical and biological prognostic features (DNA index, MYCN, age, and stage). All categories of disease were represented including 7 ganglioneuromas, 8 stage 4S, 33 local-regional (stages 1, 2, and 3), and 72 stage 4 NB according to the International Neuroblastoma Staging System. Read More

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February 2000

Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis.

Proc Natl Acad Sci U S A 2000 Mar;97(6):2662-7

Division of Human Cancer Genetics and Department of Pathology, Ohio State University, Comprehensive Cancer Center, Columbus, OH 43210, USA.

The distal portion of chromosome 1p is one of the most commonly affected regions in human cancer. In this study of hereditary and sporadic colorectal cancer, a region of frequent deletion was identified at 32.2 centimorgans from 1ptel. Read More

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