Chromosomal segregation in sperm of Robertsonian translocation carriers. [PDF]
J Assist Reprod Genet, 2013 To study meiotic segregation patterns of Robertsonian translocations in sperm of male carriers and to assess the frequencies of unbalanced sperm formation.FISH with combination of probes to detect all the variants of meiotic segregation was performed on decondensed sperm nuclei of 5 carriers of der(13;14), 3 carriers of der(14;21) and one carrier of a ...
Pylyp LY, Zukin VD, Bilko NM.
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A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation [PDF]
Frontiers in Pediatrics, 2020 Kagami–Ogata syndrome (KOS) is a rare imprinting disorder characterized by skeletal abnormalities, dysmorphic facial features, growth retardation and developmental delay.
Xiaoxue Wang +8 more
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Male Infertility in Robertsonian Translocation: A Case Report. [PDF]
Am J Case Rep, 2020 BACKGROUND Translocations are the most common type of chromosomal structural anomalies. In balanced translocations, there is not an obvious loss of genetic material; they are usually phenotypically normal adults who present with reproductive issues. Male carriers of Robertsonian (ROB) translocation can have infertility and are shown to have abnormal ...
Almesned RK +4 more
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A family with Robertsonian translocation: a potential mechanism of speciation in humans. [PDF]
Mol Cytogenet, 2016 Background: Robertsonian translocations occur in approximately one in every 1000 newborns. Although most Robertsonian translocation carriers are healthy and have a normal lifespan, they are at increased risk of spontaneous abortions and risk of producing
Song J +9 more
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Robertsonian Translocation t (21; 21) in a Female Born to Normal Parents: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 Downs syndrome (DS) occurs due to an extra copy of chromosome 21. About 3% of cases of Downs syndrome occur due to Robertsonian translocation, most commonly t (14; 21), other types of translocations are very rare cause of the syndrome.
Giriraj Kusre +3 more
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FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers [PDF]
Frontiers in Genetics, 2022 Fluorescence in situ hybridization analysis of numerical chromosomal abnormalities in the sperm of Robertsonian translocation der (13;14) (q10;q10) carriers has focused on a limited number of chromosomes mainly on chromosome 13, 18, 21, X, and Y.
Saijuan Zhu +12 more
doaj +2 more sources
Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report [PDF]
Molecular Cytogenetics, 2022 Background Maternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small supernumerary marker chromosome as derivative (22)inherited to the proband is not been reported yet.
H. C. Manju +5 more
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Journal of Human Reproductive Sciences, 2019 Robertsonian translocation is a subtype of balanced translocation involving two acrocentric chromosomes. Individuals who are carrier of this abnormality are at increased risk of infertility or bad obstetric history.
Paresh Singhal +4 more
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Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2) [PDF]
Balkan Journal of Medical Genetics, 2018 The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22 ...
Atli Eİ +5 more
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A new Robertsonian translocation in Holstein-Friesian cattle [PDF]
Genetics Selection Evolution, 1997 Une nouvelle translocation robertsonienne dans la race Prim'Holstein. Une nouvelle translocation robertsonienne a ete mise en evidence chez une vache de race Holstein. La coloration en bandes GTG nous a permis d'identifier les chromosomes impliques dans la translocation. Il s'agit des chromosomes 19 et 21.
Mimar S +7 more
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