Molecular and clinical characteristics of 26 cases with structural Y chromosome aberrations

JW Kim, SY Park, HM Ryu, DE Lee, BY Lee… - … and Genome Research, 2012 - karger.com
Structural abnormalities include various types of translocations, inversions, deletions,
duplications and isochromosomes. Structural abnormalities of the Y chromosome are …

Fine mapping of re-arranged Y chromosome in three infertile patients with non-obstructive azoospermia/cryptozoospermia

AK Faure, I Aknin-Seifer, V Satre, F Amblard… - Human …, 2007 - academic.oup.com
BACKGROUND Cytogenetically detectable aberrations of the Y chromosome, such as
isodicentrics, rings or translocations are sometimes associated with male non-obstructive …

Direct duplication of the Y chromosome with normal phenotype–incidental finding in two cases

LC Kuan, MT Su, PL Kuo, TC Kuo - Andrologia, 2013 - Wiley Online Library
Structural rearrangement in the Y chromosome is closely involved in spermatogenesis.
However, several Y chromosome variants may have no deleterious effects on male …

[HTML][HTML] Y-chromosome microdeletion and phenotype in cytogenetically normal men with idiopathic azoospermia

M Fujisawa, T Shirakawa, M Kanzaki, H Okada… - Fertility and sterility, 2001 - Elsevier
Objective: To determine the prevalence of microdeletions of the long arm of chromosome Y
within the AZFa, AZFb, and AZFc subregions in patients with idiopathic azoospermia, and …

Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis

K Hucklenbroich, J Gromoll, M Heinrich… - Human …, 2005 - academic.oup.com
BACKGROUND: Partial deletions of the AZFc region of the Y chromosome were reported to
be a significant risk factor for oligo-/azoospermia. In this study, we assessed the occurrence …

Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis

C Hernando, M Carrera, I Ribas… - … in Affiliation With the …, 2002 - Wiley Online Library
We describe three cases in which we used fluorescence in situ hybridization (FISH),
polymerase chain reaction (PCR) and comparative genomic hybridization (CGH) to …

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y …

PC Patsalis, N Skordis, C Sismani… - American Journal of …, 2005 - Wiley Online Library
A mosaic karyotype consisting of a 45, X cell line and a second cell line containing a normal
or an abnormal Y chromosome is relatively common and is associated with a wide spectrum …

Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men

J Fedder, C Fagerberg, MW Jørgensen… - Basic and Clinical …, 2023 - Springer
Background Structural abnormalities as well as minor variations of the Y chromosome may
cause disorders of sex differentiation or, more frequently, azoospermia. This study aimed to …

Defining regions of the Y‐chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y‐chromosome microdeletion detection

M Kent‐First, A Muallem, J Shultz… - Molecular …, 1999 - Wiley Online Library
Cytogenetic and molecular deletion analyses of azoospermic and oligozoospermic males
have suggested the existence of AZoospermia Factor (s)(AZF) residing in deletion intervals …

Clinical and pathological correlation of the microdeletion of Y chromosome for the 30 patients with azoospermia and severe oligoasthenospermia.

HS Chiang, SD Yeh, CC Wu, BC Huang… - Asian journal of …, 2004 - europepmc.org
Aim To review the accumulated 30 patients with different area of Y chromosome
microdeletions, focusing on their correlation with the clinical and pathological findings …