Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment

Bornstein, Eran; Lenchner, Erez; Donnenfeld, Alan E.; Jodicke, Cristiano; Keeler, Sean; Kapp, S.; Divon, Michael Y.

doi:10.1016/j.ajog.2010.06.019

Cited by 13 publications

(6 citation statements)

References 22 publications

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“…No obstante, Bornstein y cols (13), reportan que el 6,8% de las indicaciones de los procedimientos invasivos fueron por tamizaje genético positivo en el primer trimestre y en nuestro estudio fue del 6,8%, datos idénticos. Sin embargo, aquí reportamos que por la observación de marcadores ecográficos del primer trimestre (sonolucencia nucal alterada y sonolucencia nucal alterada más otro marcador ecográfico), se indicaron el 20,5% de los procedimientos invasivos que diagnosticaron SD, mostrando que las indicaciones del procedimiento invasivo se consiguieron en el 27,3% de los casos en el primer trimestre, permitiendo realizarse el procedimiento y a las pacientes tomar decisiones a más temprana edad gestacional sobre la continuidad del embarazo.…”

Section: Tabla II Valor Predictivo Positivo Para El Diagnóstico De Síunclassified

Variabilidad de las indicaciones en el diagnóstico prenatal del síndrome de Down

Fandiño-Losada¹,

Lucumí-Villegas²,

Ramírez-Cheyne³

et al. 2016

Rev. chil. obstet. ginecol.

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Section: Tabla II Valor Predictivo Positivo Para El Diagnóstico De Síunclassified

Variabilidad de las indicaciones en el diagnóstico prenatal del síndrome de Down

Fandiño-Losada¹,

Lucumí-Villegas²,

Ramírez-Cheyne³

et al. 2016

Rev. chil. obstet. ginecol.

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“…DS is a genetic abnormality caused by the existence of additional copy or part of human chromosome 21 (Antonarakis & Epstein, ; Karmiloff‐Smith et al, ; Patterson, ; Ringman, Rao, Lu, & Cederbaum, ). Three copies of chromosome 21 are the most cause of DS (complete T21) (Bornstein et al, ). Less frequency mosaicism for trisomy 21 and translocation can also lead to DS (Bornstein et al, ; Ringman et al, ).…”

Section: Introductionmentioning

confidence: 99%

“…Three copies of chromosome 21 are the most cause of DS (complete T21) (Bornstein et al, ). Less frequency mosaicism for trisomy 21 and translocation can also lead to DS (Bornstein et al, ; Ringman et al, ). Ninety to ninety‐five per cent of people affected with DS had an extra copy of entire chromosome 21 in all cells (Papavassiliou et al, ), and in 3%–5% of cases, mosaicism is the reason of DS resulted by a nondisjunction post‐zygotic incident (Flores‐Ramírez et al, ).…”

Section: Introductionmentioning

confidence: 99%

A male Down syndrome with two normal boys: Cytogenetic, paternity and andrological investigations

Jazayeri

Gorjizadeh²

2020

Andrologia

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Down syndrome is the most common autosomal chromosome anomaly with several medical abnormalities and intellectual disability, occurring in about of 1:1,000 to 1:1,100 infants. Many pregnancies in women with Down syndrome produce children both with normal and with trisomy 21, whereas males are infertile. However, Down syndrome males are not always infertile and this is not global. Here we reported a 36‐year‐old man with proved nonmosaic trisomy 21 fathered two normal boys. Paternity analysis using 26 microsatellite loci confirmed that Down syndrome male is the biological father of his two normal boys. Serum LH, FSH, testosterone and 17‐OH progesterone were all in the normal range in this father with Down syndrome. To the best of our knowledge, this is the second report of one man with Down syndrome who has two normal children in the world. The current study not only supports the rare evidence of the fertility of males with Down syndrome but also highlights the caution in advising people responsible for the care of adults with this condition about possible fertility and transmission of sexual diseases as well.

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“…In any case, the varying extension of certain phenotypic traits seems to be related to the amount of additional genetic material, but this does not seem to exert influence on the intellectual level (Bornstein et al, 2010;Devlin & Morrison, 2004a;Loeches, Iglesias & Carvajal, 1991). However, when this comparison has been carried out with cases caused by mosaicism it was observed that the latter present less accused phenotypic characteristics in relation to the number of cells affected (Devlin & Morrison, 2004b;Dreux et al, 2008;Serés et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

“…Currently, it is widely known that between 90-95% of cases are due to regular trisomy of HSA21, while the rest are due to HSA21trisomy by translocation or mosaicism (Bornstein et al, 2010;Patterson, 2007).…”

Section: Introductionmentioning

confidence: 99%

Avances Citogenéticos y Neurobiológicos en el Síndrome de Down

Fernández-Alcaraz

Carvajal-Molina

2014

analesps

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Título: Avances Citogenéticos y Neurobiológicos en el Síndrome de Down. Resumen: El síndrome de Down es una alteración autosómica que, tradicionalmente, ha sido estudiada de forma independiente, desde ámbitos como la medicina, la biología o la psicología. En este artículo pretendemos ir más allá e incorporar una perspectiva multidisciplinar que contemple, por una parte, los principales hallazgos de estas disciplinas y por otra, las teorías que intentan explicar las complejas relaciones que se producen entre dichos hallazgos. Con este objetivo, revisamos los avances que se han realizado en el campo de la genética, la neuroanatomía y la neuroquímica en relación a este síndrome, así como las explicaciones que se han desarrollado para intentar entender el perfil neuropsicológico asociado con esta alteración. Creemos que la incorporación de esta perspectiva ayudará a alcanzar una visión general sobre los correlatos psicobiológicos del síndrome de Down. Palabras Clave: Síndrome de Down; genética; neuroanatomía; neuroquí-mica; neuropsicología; psicobiología.Abstract: Down syndrome is an autosomal trisomy that traditionally has been studied independently from fields such as medicine, biology or psychology. In this article, we intend to go further and incorporate a multidisciplinary approach that includes, on the one hand, the main findings of these disciplines and, the theories that attempt to explain the complex relationships that occur between such findings. With this aim, we review the progress that has been made in the field of genetics, neuroanatomy and neurochemistry in relation to this syndrome, as well as the explanations that have been developed to try to understand the neuropsychological profile associated with this condition. We believe that the incorporation of this perspective will help achieve an overview of the psychobiological correlates of Down syndrome.

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Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment

Cited by 13 publications

References 22 publications

Variabilidad de las indicaciones en el diagnóstico prenatal del síndrome de Down

Variabilidad de las indicaciones en el diagnóstico prenatal del síndrome de Down

A male Down syndrome with two normal boys: Cytogenetic, paternity and andrological investigations

Avances Citogenéticos y Neurobiológicos en el Síndrome de Down

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