Chromosome 9 inversion: pathogenic or benign? A comprehensive systematic review of all clinical reports

N Mohsen-Pour, T Talebi, N Naderi… - Current Molecular …, 2022 - ingentaconnect.com
inversion encountered in human cytogenetics is pericentric … carriers of the pericentric inversion,
an inversion most often has … diagnosis of cases with ambiguous genitalia. In children with …

[PDF][PDF] Chromosome Abnormalities Related to Male Infertility

O Demirhan - Infertility, 2023 - medtextpublications.com
… We found mosaic forms of other X and Y chromosomes (XY/… We also detected paracentric
inversion Y in one case. … Combined cytogenetic and Y chromosome microdeletion screening in …

Turner Syndrome Mosaicism 45, X/46, XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case

B Lamanna, M Vinciguerra, M Dellino… - … Journal of Molecular …, 2022 - mdpi.com
… with a Y chromosome, there may be ambiguous genitalia. … for a pericentric inversion on
the X-chromosome to affect … leukocytes through a cytogenetic investigation but sometimes it …

Pericentric inversion in chromosome 1 and male infertility

R Li, H Fan, Q Zhang, X Yang, P Zhan, S Feng - Open Medicine, 2020 - degruyter.com
… 1 have been reported with normal fertility and familial … underwent cytogenetic detection
because fetal chromosomal … The two most common types of infertility in male patients are …

[HTML][HTML] Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18q)/del (18p) due to a paternal pericentric inversion 18 in a fetus with multiple …

MJ Lee, SH Park, SH Shim, M Moon, DH Cha - Taiwanese Journal of …, 2019 - Elsevier
present prenatal diagnosis of rec(18)dup(18q)inv(18)(p11.2q21.2)pat owing to paternal
pericentric inversion … This disease not only has a devastating impact on the patient's family but …

Background, diagnosis, types, management/prevention and implications of chromosomal abnormalities

S Poornima, S Vadrevu, IA Khan - … and Other Chromosome …, 2021 - books.google.com
… growth/retardation, ambiguous genitalia, metabolic disorders, … This extra Y chromosome
is the result of father’s erroneous … arms and more frequently than paracentric inversion. Like …

Multiscale analysis of SRY‐positive 46, XX testicular disorder of sex development: Presentation of nine cases

OS Akar, S Gunes, U Abur, E Altundag, R Asci… - Andrologia, 2020 - Wiley Online Library
… age due to the ambiguous genitalia or micropenis (Majzoub … of Y chromosome material
except SRY gene in these patients… The most common paracentric inversion of the Yp, about 3.5-…

[HTML][HTML] Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study

TR Özdemir, B Özyılmaz, Ö Çakmak… - Turkish journal of …, 2020 - ncbi.nlm.nih.gov
… that cytogenetic and Y-chromosome microdeletion studies should … The risk is very low in
paracentric inversion and is between 5… The family with Y-chromosomal microdeletion should be …

Karyotyping as the first genomic approach

A Breman, P Stankiewicz - Genomics of Rare Diseases, 2021 - Elsevier
… the complement of X and Y chromosomes. Thus, the normal … , infertility, or ambiguous
genitalia. Mosaicism and structural … a family history of a pericentric inversion of chromosome 3. (A…

Genetic mutations contributing to non-obstructive azoospermia

VN Peña, TP Kohn, AS Herati - Best practice & research Clinical …, 2020 - Elsevier
… —Y chromosome microdeletions, chromosome abnormalities… In both paracentric and
pericentric inversions, chromosomes … female phenotype to ambiguous genitalia to predominantly …