Articles with "robertsonian translocation" as a keyword



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Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene

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Published in 2020 at "Journal of Assisted Reproduction and Genetics"

DOI: 10.1007/s10815-020-01846-y

Abstract: Purpose To perform complex preimplantation genetic tests (PGT) for aneuploidy screening, Robertsonian translocation, HLA-matching, and X-linked hyper IgM syndrome (XHIGM) caused by a novel mutation c.156 G>T of CD40LG gene. Methods Reverse transcription PCR (RT-PCR)… read more here.

Keywords: robertsonian translocation; cd40lg gene; hla; cd40lg ... See more keywords
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Development and characterization of novel Triticum aestivum-Agropyron cristatum 6P Robertsonian translocation lines

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Published in 2021 at "Molecular Breeding"

DOI: 10.1007/s11032-021-01251-y

Abstract: Agropyron cristatum (L.) Gaertn. (2n = 4x = 28, PPPP), one of the most important wild relatives of wheat, harbors many desirable genes for wheat genetic improvement. Development of wheat-A. cristatum translocation lines with superior agronomic traits facilitates wheat… read more here.

Keywords: translocation lines; agropyron cristatum; translocation; robertsonian translocation ... See more keywords
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P–525 Analysis of segregation patterns of trivalent structure and the effect on genome stability in Robertsonian translocation carriers

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Published in 2021 at "Human Reproduction"

DOI: 10.1093/humrep/deab130.524

Abstract: What are the factors that affect the separation pattern of Robertsonian translocation trivalent, and whether the structure of the trivalent affected the chromosome stability? The meiotic segregation modes can be affected by the carrier’s sex… read more here.

Keywords: translocation carriers; translocation; robertsonian translocation; structure ... See more keywords
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Reciprocal translocation and Robertsonian translocation in relation to semen parameters: A retrospective study and systematic review.

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Published in 2021 at "Andrologia"

DOI: 10.1111/and.14262

Abstract: Reciprocal translocation and Robertsonian translocation are known to be causative factors of male infertility. However, the association between autosomal reciprocal translocation, Robertsonian translocation and semen parameters remains controversial. We performed a retrospective study and systematic… read more here.

Keywords: translocation robertsonian; translocation; motility; robertsonian translocation ... See more keywords
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A Rare De Novo Robertsonian Translocation t(21q; 21q) in an Iranian Child With Down Syndrome: A Case Report

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Published in 2020 at "Acta medica Iranica"

DOI: 10.18502/acta.v57i8.2430

Abstract: Down syndrome or trisomy 21 is the most common genetic disorder with a prevalence of 1 in 700 live-born infants. It is characterized by the intellectual disability of varying range, developmental delay, distinctive facial features… read more here.

Keywords: 21q 21q; translocation 21q; child; case ... See more keywords
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FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.1010568

Abstract: 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… read more here.

Keywords: robertsonian translocation; der q10; translocation der; q10 ... See more keywords