Results 41 to 50 of about 3,485 (190)

The Risk of Transmission of Genetic Prion Diseases is Greater Than 50%

European Journal of Neurology, Volume 32, Issue 12, December 2025.
This study investigated whether transmission ratio distortion (TRD) occurs in inherited prion diseases, specifically familial Creutzfeldt‐Jakob disease (p.E200K variant) and fatal familial insomnia (p.D178N variant), despite the theoretical 50% autosomal dominant inheritance risk.
Izaro Kortazar‐Zubizarreta, Africa Manero‐Azua, Hasier Eraña, Urko Aguire, Joaquín Castilla, Guiomar Perez de Nanclares   +5 more
wiley   +1 more source

Cytogenetic analysis of 1284 cases of Down syndrome [PDF]

Journal of Kerman University of Medical Sciences, 1997
Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chromosome 21 aberration,including 1284(98.77%) of Down syndrome have been detected.1191 of cases (92.76%) born free trisomy 21:61 cases (4.75%) revealed ...
M.H Kariminejhad, R Kariminejhad, F Azimi, N Nabavi nia, K Alavi, M.T Takyar, Y Shafeghati   +6 more
doaj  

Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10)

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13; 14) (q10; q10 ...
Chih-Ping Chen, Ming Chen, Gwo-Chin Ma, Shun-Ping Chang, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Meng-Shan Lee, Wayseen Wang   +8 more
doaj   +1 more source

Genome Architecture and Speciation in Plants and Animals

Molecular Ecology, Volume 34, Issue 22, November 2025.
ABSTRACT There have been numerous treatments of specific topics in speciation, but surprisingly few papers have compared patterns and processes of speciation across different organismal groups. In this review, we partially address this gap by asking how variation in genome architecture impacts speciation across the plant and animal kingdoms.
Silu Wang, Judith E. Mank, Daniel Ortiz‐Barrientos, Loren H. Rieseberg   +3 more
wiley   +1 more source

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from 13 robertsonian translocations

Balkan Journal of Medical Genetics, 2017
The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was
Wang B, Nie B, Tang D, Li R, Liu X, Song J, Wang W, Liu Z   +7 more
doaj   +1 more source

A New Approach for Accurate Detection of Chromosome Rearrangements That Affect Fertility in Cattle

Animals, 2020
Globally, cattle production has more than doubled since the 1960s, with widespread use of artificial insemination (AI) and an emphasis on a small pool of high genetic merit animals.
Rebecca L. Jennings, Darren K. Griffin, Rebecca E. O’Connor   +2 more
doaj   +1 more source

International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies

Prenatal Diagnosis, Volume 45, Issue 10, Page 1334-1342, September 2025.
ABSTRACT Cytogenetic technologies such as G‐banding chromosome and FISH analyses have long been the gold standard diagnostic test in prenatal genetic testing. However, unbiased next‐generation sequencing technologies such as fetal exome or genome sequencing (ES/GS) are becoming widely accessible and increasingly utilized, particularly for fetuses with ...
Yassmine M. N. Akkari, Michael E. Talkowski, Amy M. Breman   +2 more
wiley   +1 more source

Interpreting the Origins and Functions of Noncoding RNAs From the Ribosomal Genes

Journal of Cellular Physiology, Volume 240, Issue 8, August 2025.
The Ribosomal RNA genes are repressed by the p14/p19ARF tumour suppressor. Activity of an upstream promoter duplication is normally blocked by Transcription Termination Factor 1 (TTF1). However, ARF displaces TTF1, inducing gene repression by “Noncoding‐RNA‐Induced Promoter Occlusion” or RIPO. TTF1 may control other Noncoding RNA generated under stress.
Tom Moss, Dany S. Sibai, Frédéric Lessard   +2 more
wiley   +1 more source

Fragility in the 14q21q translocation region

Genetics and Molecular Biology, 2002
Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q).
Stacy R. Denison, Asha S. Multani, Sen Pathak, Ira F. Greenbaum   +3 more
doaj   +1 more source

Contribution of an Ambidirectional Cohort Study on the Epidemiology of 186 Autism Spectrum Disorder Cases in an Algerian Population

International Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.
This study is the first to report clinical and paraclinical profiles of autism spectrum disorder (ASD) in Algeria, as well as the prenatal, perinatal and postnatal factors. Findings were similar to other countries. The study highlights the need for increased awareness and training to improve early recognition of ASD in Algeria. ABSTRACT Autism spectrum
Ourida Loumi, Christian R. Andres
wiley   +1 more source