Results 61 to 70 of about 3,485 (190)

Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability

Egyptian Journal of Medical Human Genetics, 2018
Background: The Robertsonian translocations inherited from parents with a normal phenotype are often discovered through children with pathogenesis.
Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Irina S. Kolesnikova, Dmitry V. Yudkin   +5 more
doaj   +1 more source

Uniparental disomy resulting from heterozygous Robertsonian translocation (13q14q) in both parents

Journal of Research in Medical Sciences, 2007
<font face="TimesNewRoman" size="2"><p align="left">Uniparental disomy (UPD) is a situation in which both members of a chromosome pair are inherited from one parent.
Mir Davood Omrani, Soraya Saleh Gargari
doaj  

Inherited Robertsonian translocation (13;14) in a child with Down Syndrome

Journal of Biochemical and Clinical Genetics, 2020
Background: Down Syndrome is a genetic disorder caused by abnormal cell division, resulting in extra genetic material from chromosome 21. Non-homologous Robertsonian translocation (RT) between chromosomes 13 and 14 is a common genetic abnormality seen in
Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur   +3 more
doaj   +1 more source

Comparative prospective study on the clinical utility of G‐banding and next‐generation sequencing for chromosomal analysis of products of conception under Advanced Medical Care A in Japan

Reproductive Medicine and Biology, Volume 24, Issue 1, January/December 2025.
Abstract Purpose To compare the clinical utility of G‐banding and next‐generation sequencing (NGS) for chromosomal analysis of products of conception (POC), a crucial tool for detecting fetal chromosomal abnormalities which are major causes of miscarriage and stillbirth.
Hidemine Honda, Tsuyoshi Takiuchi, Mika Handa, Nao Wakui, Saori Tsuji, Takeshi Goto, Shota Suzuki, Fumie Saji, Tatsuya Miyake, Sakae Goto, Satomi Okamura, Tomomi Yamada, Michiko Kodama, Tadashi Kimura   +13 more
wiley   +1 more source

Investigation of Chromosomal Abnormalities and AZF Microdeletions in Iranian Infertile Men and Their Significant Association

Andrologia, Volume 2025, Issue 1, 2025.
Objective Chromosomal abnormalities participate in male infertility by affecting a variety of physiological functions including spermatogenesis, hormonal homoeostasis, and semen quality. The long arm of the Y chromosome has an important role in the procedure of spermatogenesis.
Narges Taheri, Mahzad Nasir Shalal, Mahdi Mazloom, Diana Ghadiri, Pegah Ghandil, Kristian Leisegang   +5 more
wiley   +1 more source

Healthy Baby Born to a Robertsonian Translocation Carrier following Next-Generation Sequencing-Based Preimplantation Genetic Diagnosis: A Case Report

American Journal of Perinatology Reports, 2015
Preimplantation genetic diagnosis (PGD) is well established method for treatment of genetic problems associated with infertility. Moreover, PGD with next-generation sequencing (NGS) provide new possibilities for diagnosis and new parameters for ...
Krzysztof Lukaszuk, Sebastian Pukszta, Karolina Ochman, Celina Cybulska, Joanna Liss, Ewa Pastuszek, Judyta Zabielska, Izabela Woclawek-Potocka   +7 more
doaj   +1 more source

The Clinical Effectiveness of Preimplantation Genetic Diagnosis for Chromosomal Translocation Carriers: A Meta-analysis

Global Medical Genetics, 2020
Published data on the relationship between pregnancy outcomes of preimplantation genetic diagnosis (PGD) in translocation carriers have implicated inconclusive results.
Manijeh Mahdavi, Seyedeh M. Sharafi, Seyede S. Daniali, Roya Riahi, Majid Kheirollahi   +4 more
doaj   +1 more source

A Four‐Year Retrospective Study of Amniocentesis in a Tertiary Care Center in South India—Lessons Learnt

Journal of Pregnancy, Volume 2025, Issue 1, 2025.
Background: Amniocentesis (AC) remains the most commonly performed prenatal invasive diagnostic test. The data available till now have been collected before the era of high‐end ultrasound machines, NIPS, and chromosomal microarrays. In selected cases, whole‐exome sequencing is also offered prenatally.
Jetti Gayatri Jahnavi, Roopa Padavagodu Shivananda, Akhila Vasudeva, Nivedita Hegde, Rashmi Natarajan, Nidhi Chaudhary   +5 more
wiley   +1 more source

Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities

Prenatal Diagnosis, Volume 44, Issue 13, Page 1585-1592, December 2024.
ABSTRACT Objective To investigate the association of agenesis of the ductus venosus (ADV) with genetic abnormalities using genetic studies—Chromosomal Microarray Analysis (CMA) and Exome Sequencing (ES). Design Retrospective study of all fetuses diagnosed with ADV between January 2013 and December 2022 in a tertiary center. Results ADV was diagnosed in
Yarin Mash, Ron Bardin, Yinon Gilboa, Yossi Geron, Asaf Romano, Eran Hadar, Dana Brabbing Goldstein, Bella Davidov, Ohad Houri   +8 more
wiley   +1 more source

Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)

Clinical Genetics, Volume 106, Issue 6, Page 776-781, December 2024.
We report two fetal cases of glutathione synthetase deficit, presenting with a severe polymalformative syndrome including limb anomalies. Both fetuses are compound heterozygous for two GSS variants: an out‐of‐frame deletion of the exon 3 and a reported missense substitution. 5‐oxoproline levels in amniotic fluid were elevated.
Jeanne Jury, Jean‐François Benoist, Madeleine Joubert, Chloé Quelin, Thomas Besnard, Solène Conrad, Claudine Le Vaillant, Stéphane Bézieau, Bertrand Isidor, Tania Attié‐Bitach, Benjamin Cogné, Marie Vincent   +11 more
wiley   +1 more source