Results 61 to 70 of about 226,802 (259)
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 +6 more
doaj
Chromosomal disorders and male infertility [PDF]
, 2011 Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.
Harton, Gary L. +1 more
core +1 more source
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 +8 more
doaj +1 more source
Phylogenetic inferences of Atelinae (Platyrrhini) based on multi-directional chromosome painting in Brachyteles arachnoides, Ateles paniscus paniscus and Ateles b. marginatus [PDF]
, 2005 We performed multi-directional chromosome painting in a comparative cytogenetic study of the three Atelinae species Brachyteles arachnoides, Ateles paniscus paniscus and Ateles belzebuth marginatus, in order to reconstruct phylogenetic relationships ...
C. Nagamachi +17 more
core +1 more source
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 +2 more
wiley +1 more source
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 +7 more
doaj +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 +2 more
wiley +1 more source
Down syndrome caused by 21; 21 robertsonian translocation
Sri Lanka Journal of Medicine, 2018 Down syndrome, also known as Trisomy-21, is the most common viable aneuploidy in humans. It was first described as a syndrome by John Langdon Down in 1866 and later Jerome Lejeune and Patricia Jacobs explained the association between the third copy of ...
D. U. A. Kollurage, S. T. Kudagammana
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 +2 more
doaj +1 more source
Comparison between fluorescent in-situ hybridisation and array comparative genomic hybridisation in preimplantation genetic diagnosis in translocation carriers [PDF]
, 2015 published_or_final_versio
Chow, JFC +5 more
core +1 more source