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Genetic counseling development and milestone in Oman [PDF]

Genetics in Medicine Open
Genetic counseling as an emerging profession has seen an expansion around the world. In the Sultanate of Oman, the profession has developed with the establishment of clinical and biochemical genetic services in 2010 and genetic counseling services in ...
Khalsa Al-Kharusi, Chantel Van Wyk, Mariya Al Hinai, Amel Al-Fori, Zandre Bruwer   +4 more
doaj   +2 more sources

Qatar’s genetic counseling landscape: Current insights and future prospects [PDF]

Genetics in Medicine Open
Genetic counseling is a dynamic and rapidly growing field. In Qatar, the significance of genetic counseling is underscored by the distinctive demographic characteristics of the population, including elevated rates of consanguinity and larger family sizes,
Sumaya Abiib, Houssein Khodjet-El-khil, Karen El-Akouri, Reem Ibrahim Bux, Zoulikha Rezoug, Wafa Abualainin, Moza Alkowari, Sara Osman Musa, Mariam Al Mulla, Rehab Al Saleh, Noora Shahbeck, Maria Farag, Said I. Ismail, Reem Al Sulaiman, Tawfeg Ben-Omran, Asma Al-Thani, Mashael Al-Shafai   +16 more
doaj   +2 more sources

Bibliometric analysis of genetic counseling publications in Asia: Insights and implications [PDF]

Genetics in Medicine Open
Purpose: Investigation of genetic counseling-related published papers offers a historical assessment of the cumulative scientific knowledge produced by members of the profession and can be the basis for future practice, training, and research. This paper
Peter James B. Abad, Ma-Am Joy R. Tumulak, Sook-Yee Yoon, Mercy Y. Laurino, Qurratulain Hasan   +4 more
doaj   +2 more sources

Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community [PDF]

Genetics in Medicine Open
Purpose: Despite the rapid advancements in genomics and the enactment of a new cancer law in Chile, the implementation of cancer genetic counseling continues to face significant challenges because of limited resources and infrastructure.
Ricardo Fernández-Ramires, Sebastián Morales-Pison, Guilherme Gischkow Rucatti, César Echeverría, Esteban San Martín, Francisco Cammarata-Scalisi, Alexis Salas-Burgos, Daniela Adorno-Farias, Wilfredo Alejandro González-Arriagada, Yolanda Espinosa-Parrilla, Daniela Zapata-Contreras, Gabriela Norese, Conxi Lázaro, Sara González, Miguel Angel Pujana, Yasser Sullcahuaman, Sonia Margarit   +16 more
doaj   +2 more sources

The role of the Latin American Professional Society of Genetic Counseling (SPLAGen): Advancing genetic counseling in Latin America [PDF]

Genetics in Medicine Open
The increasing importance of genomics and its expanding clinical application underscore the significance of genetic counseling in disseminating this vital information.
D. Diaz Caro, L. Simone
doaj   +2 more sources

Genetic counseling of fetal microcephaly [PDF]

Journal of Medical Ultrasound
Fetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation.
Shu-Chin Chien, Chih-Ping Chen
doaj   +2 more sources

GENETIC COUNSELLING [PDF]

Medical Journal of Australia, 1969
With advances in medicine and surgery and the concomitant decline in infectious diseases and nutritional deficiencies, the proportion of morbidity and mortality due to genetic disease has increased. Roughly 1 in 20 children admitted to hospital have a unifactorial or chromosomal disorder.
  +13 more sources

A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions

Diagnostics, 2022
Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs)
Jui-Hung Yen, Shao-Yin Chu, Yann-Jang Chen, Yi-Chieh Su, Chun-Ching Chien, Chun-Ying Weng, Pei-Yi Chen   +6 more
doaj   +1 more source

Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience

Hereditary Cancer in Clinical Practice, 2023
Background In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrome have been covered by the Japanese national insurance system since April 2020.
Aya Tanaka, Megumi Matsumoto, Mami Takao, Shoko Miura, Yuri Hasegawa, Ryota Otsubo, Hiroko Hayashi, Ichiro Isomoto, Kiyonori Miura, Takeshi Nagayasu   +9 more
doaj   +1 more source

Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant

Human Genome Variation, 2022
Most cases of rhabdomyosarcoma (RMS) are sporadic and not associated with the Lynch syndrome (LS) spectrum. We report a young adult patient with RMS and a family history of colorectal cancer.
Akimasa Tomida, Tomohiro Chiyonobu, Shinsaku Tokuda, Mitsuru Miyachi, Kyoko Murashima, Makoto Hirata, Masanori Nakagawa, Tomoko Iehara, Junya Kuroda, Koichi Takayama   +9 more
doaj   +1 more source