Results 21 to 30 of about 105,723 (318)

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring. [PDF]

Front Genet
Zhao J, Chen P, Ren Y, Li S, Zhang W, Li Y, Wang F.   +6 more
europepmc   +3 more sources

A case–control study identifying the frequency and spectrum of chromosomal anomalies and variants in a cohort of 1000 couples with a known history of recurrent pregnancy loss in the Eastern region of India

Journal of Human Reproductive Sciences, 2021
Background: Recurrent pregnancy loss (RPL) is a common occurrence that affects up to 15% of couples in their reproductive years. In both males and females with RPL and infertility, chromosomal abnormalities play a significant impact.
Abhik Chakraborty, Sujata Kar, Purna Chandra Mohapatra, Birendranath Banerjee   +3 more
doaj   +1 more source

Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]

, 2021
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F.   +9 more
core   +1 more source

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

Molecular Genetics & Genomic Medicine, 2020
Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome.
Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. Tørring   +7 more
doaj   +1 more source

Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature

Reproductive Biology and Endocrinology, 2021
Background Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance for a healthy live birth.
Dun Liu, Chuangqi Chen, Xiqian Zhang, Mei Dong, Tianwen He, Yunqiao Dong, Jian Lu, Lihua Yu, Chuanchun Yang, Fenghua Liu   +9 more
doaj   +1 more source

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes [PDF]

, 2018
Background The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a ''Systematic Survey of Balanced ...
Abu-Omar, Bailey, Benson, Bjelland, Browne, Browning, Cader, Deininger, Delaneau, Dermitzakis, Dixon, Eldadah, Elliott, Festenstein, Gajecka, Giglio, Gu, Herman-Bert, Jeggo, Johnson, Karkera, Kilarski, Kurahashi, Li, Lieber, Luukkonen, Maarel, Maitra, Mattick, Mefford, Metcalf, Milot, Ou, Parolin Schnekenberg, Pfeiffer, Pizzuti, Purcell, Pyle, Rajakulendran, Rauch, Ray, Rudd, Sargent, Sharp, Sheridan, Shishido, Sobue, South, Steckley, Tomita-Mitchell, Traylor, Urayama, Viskochil, Warburton, Waters, Waters, Ye, Yu, Zeitouni, Zhang   +59 more
core   +2 more sources

Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing

BMC Genomics, 2023
Background Balanced reciprocal translocation (BRT) is one of the most common chromosomal abnormalities that causes infertility, recurrent miscarriage, and birth defects.
Qiuping Xia, Shenglan Li, Taoli Ding, Zhen Liu, Jiaqi Liu, Yanping Li, Huimin Zhu, Zhongyuan Yao   +7 more
doaj   +1 more source

Chromosomal control of pig populations in France: 2002-2006 survey [PDF]

, 2007
The chromosomal control of pig populations has been widely developed in France over the last ten years. By December 31st, 2006, 13 765 individuals had been karyotyped in our laboratory, 62% of these since 2002.
Berland, Hélène-Marie, Billoux, Sébastien, Bonnet, Nathalie, Calgaro, Anne, Darré, Roland, Ducos, Alain, Garnier-Bonnet, Amélie, Mary, Nicolas, Pinton, Alain   +8 more
core   +4 more sources

Prenatal Diagnosis of Complex Copy Number Variants in the Fetus and Associated Cytogenetic Findings in Parents

Clinical and Experimental Obstetrics & Gynecology, 2023
Background: Co-occurrence of complex copy number variants (CNVs) is associated with more severe clinical expressivity of known syndromes. Few studies discuss diagnosis and genetic counseling for fetuses identified with multiple CNVs.
Wei Wang, Jing Wang, Ye Shi, Bin Zhang
doaj   +1 more source

The dynamic right-to-left translocation of Cerl2 is involved in the regulation and termination of nodal activity in the mouse node [PDF]

, 2013
The determination of left-right body asymmetry in mouse embryos depends on the interplay of molecules In a highly sensitive structure, the node. Here, we show that the localization of Cerl2 protein does not correlate to its mRNA expression pattern, from ...
Belo, Jose Antonio, Hamada, Hiroshi, Inacio, Jose Manuel, Marques, Sara, Meno, Chikara, Nakamura, Tetsuya, Shinohara, Kyosuke   +6 more
core   +6 more sources