Results 21 to 30 of about 58,343 (309)

Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities

open access: yesJournal 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

Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report

open access: yesRevista 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]

open access: yesAnesthesia 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

Chromosome abnormalities in erythroleukemia [PDF]

open access: yesCancer, 1987
Erythroleukemia (EL) is a heterogeneous disease in terms of cell type affected, chromosome abnormalities found in the malignant clone, and clinical course. In this article, cases of erythroid EL from the recent medical literature are reviewed using cytogenetic criteria to distinguish such cases from those of myeloid EL.
openaire   +2 more sources

Klinefelter syndrome and its association with male infertility

open access: yesAsian 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

open access: yesActa 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

Establishment of a novel human lymphoblastic cell strain with the long arm of chromosome 11 aberration without MLL rearrangement

open access: yesScientific Reports, 2017
At present, all cell strains derived from acute lymphoblastic leukemia (ALL) patients with the long arm of chromosome 11 aberration are accompanied with mixed lineage leukemia (MLL) gene rearrangement.
Qian Wang   +14 more
doaj   +1 more source

Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies

open access: yesMolecular Cytogenetics, 2022
Background Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual ...
Austin Walker   +7 more
doaj   +1 more source

Chromosome Abnormalities

open access: yesVeterinary Clinics of North America: Food Animal Practice, 1993
Chromosome abnormalities have been described in food animals since 1964. Some are self-limiting because they cause sterility or other developmental defects incompatible with normal growth and development, making them unacceptable for production systems.
openaire   +2 more sources

Translocation t(X;20)(q13;q13.3) as a secondary chromosome abnormality in a patient with 5q-: a case report [PDF]

open access: yes, 2013
Case report of a translocation : Translocation t(X;20)(q13;q13.3) as a secondary chromosome abnormality in a patient with 5q-: a case ...
Rodrigues, Pereira Velloso ED   +5 more
core   +1 more source

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