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Novel and Fusion Genes in T-cell Acute Lymphoblastic Leukemia.
Cancer Genomics Proteomics
January 2023
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Background/aim: T-cell acute lymphoblastic leukemia (T-ALL) is a rare malignancy characterized by proliferation of early T-cell precursors that replace normal hematopoietic cells. T-ALL cells carry non-random chromosome aberrations, fusion genes, and gene mutations, often of prognostic significance. We herein report the genetic findings in cells from a T-ALL patient.
View Article and Find Full Text PDFPrenatally diagnosed 16p11.2 copy number variations by SNP Array: A retrospective case series.
Clin Chim Acta
January 2023
Department of Health Toxicology, MOE Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Objective: The 16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, with a broad spectrum of phenotypes. The fetal phenotype associated with 16p11.
View Article and Find Full Text PDFMicrodeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.
Mol Cytogenet
May 2022
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Background: Silver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, body asymmetry and typical facial features. Clinical and molecular heterogeneity is described in SRS. Common causes are loss of methylation of the imprinting center 1 in 11p15 and maternal uniparental disomy of chromosome 7.
View Article and Find Full Text PDFGenome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.
Mol Cytogenet
April 2022
Institute for Gynecology, Perinatology, and Infertility "Mehmedbašić", 71000, Sarajevo, Bosnia and Herzegovina.
Background: Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT sequencing technology are becoming promising and more reliable, the ability to detect beyond aneuploidies and to expand detection of submicroscopic genomic alterations, as well as single-gene disorders might become possible.
View Article and Find Full Text PDFPrenatal diagnosis of Cri-du-Chat syndrome with concomitant distal trisomy 10q syndrome in one fetus with ultrasound anomalies.
Taiwan J Obstet Gynecol
March 2021
Medical Genetics and Prenatal Diagnosis, Kunming Maternal and Child Care Hospital, Yunnan, China. Electronic address:
Objective: The aim of this work was to characterize the genetic abnormalities and prenatal diagnosis indications in one fetus with Cri-du-Chat syndrome with codependent 10q24.2-q26.3 duplication in prenatal screening.
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