Chromosome abnormalities and fertility in domestic bovids: A review
A Iannuzzi, P Parma, L Iannuzzi - Animals, 2021 - mdpi.com
… with cytogenetic analyses, such as chromosome banding … a normal male phenotype to
ambiguous genitalia in newborns. … [242] found a pericentric inversion in the Y chromosome of 12 …
ambiguous genitalia in newborns. … [242] found a pericentric inversion in the Y chromosome of 12 …
European guidelines for constitutional cytogenomic analysis
M Silva, N de Leeuw, K Mann… - European Journal of …, 2019 - nature.com
… Cytogenetically visible polymorphic variants include variants involving heterochromatin (variant
size), satellite size, pericentric inversions (… If probe ratios for Y chromosome probes are …
size), satellite size, pericentric inversions (… If probe ratios for Y chromosome probes are …
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells
…, F Yates, T Lemonnier, P Callier, Y Duffourd… - Scientific Reports, 2022 - nature.com
… sex-determining region Y (SRY) gene in the Y chromosome. … 31q23.2 segment, and a
paracentric inversion of chromosome … Patient 2 is a male with DSD, including ambiguous genitalia …
paracentric inversion of chromosome … Patient 2 is a male with DSD, including ambiguous genitalia …
Investigating Cytogenetic Profiles in Couples Experiencing Recurrent Implantation Failure Post in vitro Fertilization
B Petrovic, M Komnenic Radovanovic, N Erceg… - OBM Genetics, 2024 - lidsen.com
… Family history revealed significant information: her grandmother experienced premature … Y
chromosome [25,26]. In the current study, we identified a pericentric inversion of chromosome …
chromosome [25,26]. In the current study, we identified a pericentric inversion of chromosome …
Sertoli cell-only syndrome: etiology and clinical management
N Ghanami Gashti, MA Sadighi Gilani… - Journal of assisted …, 2021 - Springer
… A rare case of 46, XX male with ambiguous genitalia and … Paracentric inversion of
chromosome 7 (q22–31) [41] and … diagnosis and subtyping of Y chromosome microdeletions are …
chromosome 7 (q22–31) [41] and … diagnosis and subtyping of Y chromosome microdeletions are …
Genetic Counseling in Reproductive Medicine
S Singh, BS Abirami, FO D'Souza… - Genetic Testing in …, 2024 - Springer
… Patients with dysgenetic gonads and a Y chromosome have an … , KISS1 genes), ambiguous
genitalia, and androgen insensitivity … The risk of pericentric inversions producing unbalanced …
genitalia, and androgen insensitivity … The risk of pericentric inversions producing unbalanced …
Genetic Testing in Male Infertility
… Cytogenetic testing (karyotype) and Y chromosome … the diagnostic workup of patients with
nonobstructive azoospermia and … family of four genes has been most prolifically studied. This …
nonobstructive azoospermia and … family of four genes has been most prolifically studied. This …
[HTML][HTML] New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia
K Trpkov, O Hes, SR Williamson, AJ Adeniran… - Modern Pathology, 2021 - Elsevier
… MiTF family translocation RCCs exhibit varied morphologic patterns and fusion partners.
TFEB-amplified RCC occurs in older patients and is associated with more aggressive behavior. …
TFEB-amplified RCC occurs in older patients and is associated with more aggressive behavior. …
Genetics of male infertility–present and future: a narrative review
DVS Sudhakar, R Shah… - Journal of human …, 2021 - journals.lww.com
… as chromosomal abnormalities, aneuploidies, Y chromosome … to observe for any cytogenetic
abnormalities as the first step … [ 15 ] Despite being benign, pericentric inversions may affect …
abnormalities as the first step … [ 15 ] Despite being benign, pericentric inversions may affect …
Genetic defects in human azoospermia
F Ghieh, V Mitchell, B Mandon-Pepin… - Basic and clinical …, 2019 - Springer
… broadened to analyses of Y chromosome microdeletions and the … Indeed, de novo or familial
chromosomal or gene … ) in patients with OA [28, 29] and Y chromosome microdeletions in …
chromosomal or gene … ) in patients with OA [28, 29] and Y chromosome microdeletions in …