by Khaliunaa Bayanbold  , Noel N. Tolbanen  , John A. Bernat  and Jaime Nagy

Received: 30 December 2023;  Published: 05 March 2024;  doi: 10.21926/obm.genet.2401220

Potocki-Lupski syndrome (PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here a 3-year-old girl diagnosed with mosaic PTLS harboring a supernumerary marker chromosome containing the RAI1 (retinoic acid induced 1) gene. Cytogenetic testing, including chromosomal microarray, karyotype, and FISH analysis, identified a ring chromosome containing portions of chromosomes 14 and 17 in [...]

by Milky Mittal  , Annu Kumari  , Bhashkar Paul  , Adya Varshney  , Bhavya  , Ashok Saini  , Chaitenya Verma  and Indra Mani

Received: 07 October 2023;  Published: 04 March 2024;  doi: 10.21926/obm.genet.2401219

Gene therapy involves either the direct introduction of genetic material (DNA or RNA) into the host cell (or organ), known as in vivo gene therapy, the re-introduction of the modified target cells taken out of the host, or ex vivo gene therapy. Cancer is mainly caused by the non-functioning of genes required for normal cell proliferation, and it has emerged as the leading cause of death globally due to the absence of efficient and safe therapies as well as early diagnostic modalities. Therapeutic trials using gene [...]

by Tkachuk Elena Anatolyevna  and Kurenkova Galina Vladimirovna

Received: 15 October 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401218

This work describes a clinical case of a violation of sex formation in a newborn child with Y-chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and associated anomalies in sex development are being considered. The work presents clinical and laboratory data for Y-chromosome dysomy. It is noted that the challenge in diagnosing disorders of sex development is associated with the polymorphic clinical manifestations of this syndrome. It is noted that the presence of Y-chromosome dysomy is [...]

by Laura Roche  , Traci Flynn  and Linda Campbell

Received: 26 September 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401217

22q11.2 deletion syndrome (22q11.2DS) is a complex and widely variable genetic syndrome involving multisystem physical health problems, significant cognitive and psychosocial challenges, all of which may impact upon learning and academic achievement. In the current study, we explored mothers’ perceptions of their child’s learning within early and primary educational contexts. We conducted 3 online focus groups and 1 online semi-structured interview with a total of 9 mothers of children diagnosed with 22q11.2DS. Mot [...]

by Dicky Moch Rizal  , Ika Setyawati  , Arya Adiningrat  , Agus Widiyatmoko  , Supriyatiningsih  and Nandia Septiyorini

Received: 09 October 2023;  Published: 27 February 2024;  doi: 10.21926/obm.genet.2401216

Y chromosome microdeletions (YCMs) are one kind of genetic disorder that contributes to male infertility. This study aims to determine the profile of YCMs in the infertile male population in Indonesia. This cross-sectional study was conducted by identifying YCMs testing data on 49 infertile male patients identified with azoospermia and oligoasthenoteratozoospermia (OAT) based on their sperm analysis, who visited andrology polyclinics in several hospitals in Yogyakarta Province between March 2021 to August 2022. Stu [...]

by Morkoss M. Fakhry  , Asmaa R. Abdel-Hamed  , Noha M. Mesbah  , Dina M. Abo-Elmatty  , Mohamed M. Sayed-Ahmed  , Abdel-Moneim M. Osman  and Ola S. Ahmed

Received: 27 November 2023;  Published: 26 February 2024;  doi: 10.21926/obm.genet.2401215

Breast cancer (BC) is the most common cause of cancer-related death and is the malignancy most frequently diagnosed in females worldwide. BC incidence is predicted to continue increasing worldwide. Without interventions, annual new cases will reach over 3 million by 2030. Genetic abnormalities account for almost 70% of all BC cases worldwide. Biological pathways implicated include non-coding RNAs (ncRNAs). MiRNAs are small non-coding RNA molecules that play a role in post-transcriptional regulation of gene expressi [...]

by Fatemeh Mollaamin  and Majid Monajjemi

Received: 27 November 2023;  Published: 21 February 2024;  doi: 10.21926/obm.genet.2401214

As proof has recommended a close connection between COVID-19 and neurodegenerative disorders, this article aims to investigate the chloroquine (CLQ) drug as the SARS-CoV-2’s primary protease, which can prevent in vitro viral duplication of all diverse experiments to present. CLQ is an anti-viral drug enlarged by Pfizer, which can operate as an orally effective 3C-like protease inhibitor. In this study, CLQ has been assessed for its effectiveness against coronavirus by trapping it within a boron nitride nanocage (B5 [...]

by Akingbolabo Daniel Ogunlakin  , Oluwafemi Adeleke Ojo  , Chimzi David Onu-Boms  , Oluwafemi Samson Afolayan  , Peluola Olujide Ayeni  , Idayat Adeola Akinwumi  , Opeyemi Josephine Akinmurele  , Great Oluwamayokun Adebodun  , Damilare Iyinkristi Ayokunle  , Owoola Azeezat Ambali  , Omolola Adenike Ajayi-Odoko  , Oluwaseun Abigael Ogunlakin  and Mubo Adeola Sonibare

Received: 20 November 2023;  Published: 20 February 2024;  doi: 10.21926/obm.genet.2401213

Polycystic ovarian syndrome (PCOS) is a prevalent endocrine illness that affects 5-10% of reproductive women globally. It is a multifaceted hormonal disorder characterized by the involvement of numerous molecular mechanisms that contribute to its development. This study investigates the effect of Artocarpus communis seed on the hormonal imbalance and P53, IRS, HsD17β2, FTO, and CYP11a genes expression in the ovaries of letrozole-induced polycystic ovarian syndrome rats. To induce PCOS in 30 female Wistar rats, letr [...]

by Mohsen Akbaribazm

Received: 27 September 2023;  Published: 31 January 2024;  doi: 10.21926/obm.genet.2401212

The escalating prevalence of vision loss due to eye diseases has instigated a quest for innovative therapies, given that conventional approaches often fall short in repairing and regenerating damaged eye tissues, particularly the retina. Stem cell-based interventions have emerged as a promising avenue, with numerous studies in animal models and human trials exploring their potential to enhance visual acuity. Beyond addressing conditions like age-related macular degeneration (AMD) and diabetic retinopathy (DR), stem [...]

by Bojana Petrovic  , Milica Komnenic Radovanovic  , Nikolina Erceg  , Srboljub Milicevic  and Marija Dusanovic Pjevic

Received: 22 November 2023;  Published: 17 January 2024;  doi: 10.21926/obm.genet.2401211

This study evaluates how chromosomal factors affect assisted reproduction techniques (ART) challenges among infertile couples, impacting their chances of conception. Chromosomal abnormalities, a leading cause of pregnancy failure and miscarriages, were investigated in a four-year retrospective study involving 100 patients with a history of infertility and unsuccessful IVF treatment. Among these cases, nine (9%) displayed aberrant chromosomal patterns, including balanced translocations (5%), sex chromosome deletions [...]