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A rapid method for assembly of single chromosome and identification of sex determination region based on single-chromosome sequencing.
Publication Type: Academic Journal
Source(s): The New phytologist [New Phytol] 2023 Oct; Vol. 240 (2), pp. 892-903. Date of Electronic Publication: 2023 Aug 02.
Abstract: The sex-determining-region (SDR) may offer the best prospects for studying sex-determining gene, recombination suppression, and chromosome heteromorphism. However, current progress of SDR identification and cloning showed following shortcomings: large ...
A rare ring chromosome 21 abnormality is associated with azoospermia in two different phenotypically normal cases.
Publication Type: Academic Journal
Source(s): Systems biology in reproductive medicine [Syst Biol Reprod Med] 2023 Oct; Vol. 69 (5), pp. 387-393. Date of Electronic Publication: 2023 Jul 04.
Abstract: Azoospermia can be diagnosed with spermiogram analysis, and karyotyping is the golden standard to explain the etiology. In this study, we investigated two male cases with azoospermia and male infertility for chromosomal abnormalities. Their phenotypes ...
Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.
Publication Type: Academic Journal
Source(s): BMC medical genomics [BMC Med Genomics] 2023 Nov 09; Vol. 16 (1), pp. 282. Date of Electronic Publication: 2023 Nov 09.
Abstract: Background: 1P36 deletion syndrome is recognized as the most common terminal microdeletion syndrome in humans, characterized by early developmental delay and consequent intellectual disability, seizure disorder, and distinctive facial features. Variabl...
Double-strand breaks induce inverted duplication chromosome rearrangements by a DNA polymerase δ-dependent mechanism.
Publication Type: Academic Journal
Source(s): Nature communications [Nat Commun] 2023 Nov 02; Vol. 14 (1), pp. 7020. Date of Electronic Publication: 2023 Nov 02.
Abstract: Inverted duplications, also known as foldback inversions, are commonly observed in cancers and are the major class of chromosome rearrangement recovered from yeast cells lacking Mre11 nuclease activity. Foldback priming at DNA double-strand breaks (DSB...
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Publication Type: Academic Journal
Source(s): European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Nov; Vol. 31 (11), pp. 1228-1236. Date of Electronic Publication: 2023 Mar 06.
Abstract: Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after extensive evaluation. A point in case is our clinically heterogeneous cohort of NDD patients that remained undi...
Detection of complex chromosome rearrangements using optical genome mapping.
Publication Type: Academic Journal
Source(s): Gene [Gene] 2023 Oct 30; Vol. 884, pp. 147688. Date of Electronic Publication: 2023 Aug 03.
Abstract: Chromosomal structural variations (SVs) are a main cause of human genetic disease. Currently, karyotype, chromosomal microarray analysis (CMA), and fluorescent in situ hybridization (FISH) form the backbone of current routine diagnostics (CRD). These m...
Testing immediate dosage compensation in Drosophila miranda via irradiation with heavy-ion beams.
Publication Type: Academic Journal
Source(s): Genes & genetic systems [Genes Genet Syst] 2023 Oct 24; Vol. 98 (4), pp. 201-206. Date of Electronic Publication: 2023 Sep 29.
Abstract: Many organisms with heteromorphic sex chromosomes possess a mechanism of dosage compensation (DC) in which X-linked genes are upregulated in males to mitigate the dosage imbalance between sexes and between chromosomes. However, how quickly the DC is es...
Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
Publication Type: Academic Journal
Source(s): Clinical genetics [Clin Genet] 2023 Oct; Vol. 104 (4), pp. 472-478. Date of Electronic Publication: 2023 May 26.
Abstract: Lymphedema is a troubling condition present in many disorders including the rare genetic disorder known as Phelan-McDermid syndrome (PMS). The neurobehavioral features of PMS, also known as 22q13.3 deletion syndrome, have been investigated, but little ...
Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.
Publication Type: Report
Source(s): International journal of molecular sciences [Int J Mol Sci] 2023 Sep 27; Vol. 24 (19). Date of Electronic Publication: 2023 Sep 27.
Abstract: Trisomy X is the most frequent sex chromosome anomaly in women, but it is often underdiagnosed postnatally because most patients do not show any clinical manifestation. It is estimated that only 10% of patients with trisomy X are diagnosed by clinical ...
A rare case of acute megakaryoblastic leukaemia with constitutional ring chromosome 21.
Publication Type: Academic Journal
Source(s): British journal of haematology [Br J Haematol] 2023 Sep; Vol. 202 (5), pp. 912. Date of Electronic Publication: 2023 Jun 06.