Nuclear organisation of sperm remains remarkably unaffected in the presence of defective spermatogenesis [PDF]
, 2011 Organisation of chromosome territories in interphase nuclei has been studied in many systems and positional alterations have been associated with disease phenotypes (e.g. laminopathies, cancer) in somatic cells.
Ellis, Michael +11 more
core +1 more source
Functional and molecular effects of chromosome 21 trisomy [PDF]
, 2010 Down Syndrome (DS) is the most frequent autosomal aneuploidy that is compatible with post-natal life. The DS phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes.
Izzo, Antonella
core +1 more source
Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities
Journal of International Medical Research, 2018 Objectives To investigate azoospermic factor (AZF) microdeletions in infertile men from northeastern China with karyotypic Y chromosome abnormalities. Methods G-banding of metaphase chromosomes and karyotype analysis were performed in all infertile male ...
Yuan Pan +6 more
doaj +1 more source
Revista Brasileira de Hematologia e Hemoterapia, 2013 Chromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid ...
Daniela Ribeiro Ney Garcia +4 more
doaj +1 more source
Anesthetic considerations for an adult with Wolf-Hirschhorn syndrome - A case report - [PDF]
Anesthesia and Pain Medicine, 2020 Background Wolf-Hirschhorn syndrome (WHS) includes features such as growth restriction, mental retardation, congenital heart disease, convulsions as well as microcephaly and micrognathia.
Hye-Jin Kim +5 more
doaj +1 more source
Multicolor chromosome bar codes [PDF]
, 2006 Chromosome bar codes are multicolor banding patterns produced by fluorescence in situ hybridization (FISH) with differentially labeled and pooled sub-regional DNA probes.
Müller, Stefan, Wienberg, Johannes
core +1 more source
Chromosomal aberrations in transitional cell carcinoma that are predictive of disease outcome are independent of polyploidy [PDF]
, 1999 Objective To determine whether aneusomy for chromosomes 7, 9 and 17 (reported to predict recurrence in up to 65% of patients with superficial transitional cell bladder cancer and thus providing the opportunity for early and effective treatment) reflects ...
Watters, A.D. +4 more
core +1 more source
The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary [PDF]
, 1994 Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will ...
Cremer, Thomas +8 more
core +1 more source
Klinefelter syndrome and its association with male infertility
Asian Pacific Journal of Reproduction, 2014 Klinefelter's syndrome is the most common genetic disorder in which there is at least one extra X chromosome. Males normally have an X chromosome and a Y chromosome (XY).
V Ramakrishnan +2 more
doaj +1 more source
Association of X Chromosome Aberrations with Male Infertility
Acta Medica Bulgarica, 2021 Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect.
Xharra S. +5 more
doaj +1 more source