Results 41 to 50 of about 521,476 (356)

How might a balanced chromosomal translocation lead to a spectrum of intellectual disabilities in newborns? [PDF]

open access: yesJournal of Epigenetics, 2023
Background: Intellectual disability (ID) consists of a broad range of disorders characterized by low general intellectual functioning (IQ below 70). ID etiologic causes are heterogeneous, ranging from environmental to chromosomal and monogenic conditions.
Farzaneh Iravani   +2 more
doaj   +1 more source

Detection of non-reciprocal/reciprocal ALK translocation as poor predictive marker in first-line crizotinib-treated ALK-rearranged non-small cell lung cancer patients.

open access: yesJournal of Thoracic Oncology, 2020
BACKGROUND During non-reciprocal/reciprocal translocation process, 5'-ALK sometimes get retained in the genome and are detectable by next-generation sequencing (NGS); however, no report have investigated its clinical significance.
Yongchang Zhang   +16 more
semanticscholar   +1 more source

A new reciprocal translocation involving chromosomes 1/14 in a boar

open access: greenGenetics Selection Evolution, 1987
Franchi Fabrizia, Tarocco C, Croci G
doaj   +3 more sources

Chromosomal control of pig populations in France: 2002-2006 survey [PDF]

open access: yes, 2007
The chromosomal control of pig populations has been widely developed in France over the last ten years. By December 31st, 2006, 13 765 individuals had been karyotyped in our laboratory, 62% of these since 2002.
BERLAND, H.M.   +21 more
core   +1 more source

Preimplantation genetic diagnosis by fluorescence in situ hybridization of reciprocal and Robertsonian translocations

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2014
Objective: The presence of reciprocal and Robertsonian chromosomal rearrangement is often related to recurrent miscarriage. Using preimplantation genetic diagnosis, the abortion rate can be decreased. Cases treated at our center were reviewed.
Chun-Kai Chen   +9 more
doaj   +1 more source

Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study

open access: yesBMC Medical Genomics, 2023
Objective To determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal translocation patients. Methods This retrospective cohort study was conducted at the Third Affiliated Hospital of
Shanshan Wu   +8 more
doaj   +1 more source

Reciprocal translocations in cattle: frequency estimation [PDF]

open access: yesJournal of Animal Breeding and Genetics, 2012
SummaryChromosomal anomalies, like Robertsonian and reciprocal translocations, represent a big problem in cattle breeding as their presence induces, in the carrier subjects, a well‐documented fertility reduction. In cattle, reciprocal translocations (RCPs, a chromosome abnormality caused by an exchange of material between non‐homologous chromosomes ...
L. De Lorenzi   +5 more
openaire   +3 more sources

Identification of a t(3;4)(p1.3;q1.5) translocation breakpoint in pigs using somatic cell hybrid mapping and high-resolution mate-pair sequencing. [PDF]

open access: yesPLoS ONE, 2017
Reciprocal translocations are the most frequently occurring constitutional structural rearrangements in mammalian genomes. In phenotypically normal pigs, an incidence of 1/200 is estimated for such rearrangements. Even if constitutional translocations do
Katia Fève   +7 more
doaj   +1 more source

Phenotypic Plasticity and Local Adaptation in a Wild Hibernator Evaluated through Reciprocal Translocation*

open access: yesAmerican Naturalist, 2019
Phenological shifts are the most commonly reported ecological responses to climate change and can be produced rapidly by phenotypic plasticity. However, both the limits of plasticity and whether it will be sufficient to maintain local adaptation (or even
J. Lane   +3 more
semanticscholar   +1 more source

Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present an infertile male who was incidentally detected to have Klinefelter syndrome, a balanced reciprocal translocation of t(4; 17) (q12; q11.2) and an AZFa sY86 deletion. We review the literature and discuss the significance of 47,XXY, t(
Fang-Tzu Wu   +8 more
doaj   +1 more source

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