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
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Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing [PDF]
Molecular Genetics & Genomic MedicineIntroduction This study investigated the impact of the carrier on transferable blastocyst rate and live birth outcomes in couples with structural chromosomal abnormalities.
Zhiping Zhang +10 more
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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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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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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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Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report [PDF]
Iranian South Medical Journal, 2019 Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using
Mohammad Reza Farzaneh +3 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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Exploring the Effects of Robertsonian Translocation 1/29 (Rob (1;29)) on Genetic Diversity in Minor Breeds of Spanish Berrenda Cattle via Genome-Wide Analysis [PDF]
AnimalsMost of the previous studies on the genetic variability in Spanish “Berrenda” breeds have been carried out using DNA microsatellites. The present work aimed to estimate the genetic diversity, population structure, and potential genetic differences among ...
Rafael González-Cano +6 more
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Dynamics of response to asynapsis and meiotic silencing in spermatocytes from Robertsonian translocation carriers. [PDF]
PLoS ONE, 2013 Failure of homologous synapsis during meiotic prophase triggers transcriptional repression. Asynapsis of the X and Y chromosomes and their consequent silencing is essential for spermatogenesis.
Anna K Naumova +5 more
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