Results 41 to 50 of about 36,660 (231)

Chromosomal Analysis of Couples with Repeated Spontaneous Abortions in Northeastern Iran [PDF]

International Journal of Fertility and Sterility, 2015
Background Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs).
Saeedeh Ghazaey, Fatemeh Keify, Farzaneh Mirzaei, Masumeh Maleki, Semiramis Tootian, Mitra Ahadian, Mohammad Reza Abbaszadegan   +6 more
doaj   +1 more source

UV micro-irradiation of the Chinese hamster cell nucleus and caffeine post-treatment immunocytochemical localization of DNA photolesions in cells with partial and generalized chromosome shattering [PDF]

, 1983
UV micro-irradiation of a small part of the Chinese hamster nucleus and caffeine post-incubation often results in shattered chromosomes at the first post-irradiation mitosis.
Cornelis, Cornelis, Cornelis, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Deaven, Fukuda, Gray, Hsu, Kihlman, Lehmann, Nilsson, Stack, Stubblefield, Taylor, Zorn, Zorn   +26 more
core   +1 more source

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

Molecular Cytogenetics, 2018
Background A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual.
Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap, Nanis S. Marzuki   +5 more
doaj   +1 more source

Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report

Egyptian Journal of Medical Human Genetics, 2020
Background Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relatively high prevalence in the general
Mariya Tsvetkova, Mariya Levkova, Snezhinka Tsvetkova, Mari Hachmeriyan, Emil Kovachev, Lyudmila Angelova   +5 more
doaj   +1 more source

Genetic disorders and male infertility

Reproductive Medicine and Biology, 2020
Background At present, one out of six couples is infertile, and in 50% of cases, infertility is attributed to male infertility factors. Genetic abnormalities are found in 10%‐20% of patients showing severe spermatogenesis disorders, including non ...
Shinnosuke Kuroda, Kimitsugu Usui, Hiroyuki Sanjo, Teppei Takeshima, Takashi Kawahara, Hiroji Uemura, Yasushi Yumura   +6 more
doaj   +1 more source

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

BMC Research Notes, 2020
Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs).
Katia Margiotti, Anthony Cesta, Claudio Dello Russo, Antonella Cima, Maria Antonietta Barone, Antonella Viola, Davide Sparacino, Alvaro Mesoraca, Claudio Giorlandino   +8 more
doaj   +1 more source

Aneusomy of chromosomes 7 and 17 predicts the recurrence of transitional cell carcinoma of the urinary bladder [PDF]

, 2000
Objective To determine if changes in chromosome 7 and 17 copy number can be used to predict recurrence in patients with primary noninvasive (pTa) or superficially invasive (pT1) transitional cell carcinoma (TCC) of the urinary bladder.
A.D. Watters, Bartlett, Bartlett, Cordon-cardo, Corless, Foresman, J.J. Going, J.M.S. Bartlett, K.M. Grigor, Kallioniemi, Knowles, McCredie, Murphy, Ozen, Povey, Pycha, Qureshi, S.A. Ballantyne, Sandberg, Saran, Sauter, Sauter, Sauter, Tolley, Underwood, Waldman, Yokogi   +26 more
core   +1 more source

Pattern of Chromosomal Aberrations in Patients from North East Iran [PDF]

Cell Journal, 2013
Objective: Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques ...
Saeedeh Ghazaey, Farzaneh Mirzaei, Mitra Ahadian, Fatemeh Keifi, Semiramis Tootian, Mohammad Reza Abbaszadegan   +5 more
doaj  

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation

The Application of Clinical Genetics, 2022
Magdalena Pasińska,1 Ewelina Łazarczyk,1 Anna Repczyńska,1 Agnieszka Sobczyńska-Tomaszewska,2 Janusz Zimowski,3 Agata Runge,1 Olga Haus1 1Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz ...
Pasińska M, Łazarczyk E, Repczyńska A, Sobczyńska-Tomaszewska A, Zimowski J, Runge A, Haus O   +6 more
doaj  

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

Molecular Cytogenetics, 2019
Background Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line.
Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li, Aihua Yin   +9 more
doaj   +1 more source