LymphedemaV1, Main, Exploration, bibRecord, 008C54

Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister–Killian syndrome

Identifieur interne : 008C54 ( Main/Exploration ); précédent : 008C53; suivant : 008C55

Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister–Killian syndrome

Auteurs : P. Chiurazzi [Italie] ; J. Bajer [Italie] ; E. Tabolacci [Italie] ; M. G. Pomponi [Italie] ; R. Lecce [Italie] ; M. Zollino [Italie] ; G. Neri [Italie]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2004-10-15.

RBID : ISTEX:DF1E0CED8386A6BE80742FBF8D6A82D948C21A2D

Abstract

We report on a boy with Pallister–Killian syndrome (PKS) who was conceived by assisted reproductive technology (ART), specifically in vitro fertilization (IVF) with parents' gametes. A prenatal diagnosis performed elsewhere by CVS failed to detect the presence of the isochromosome 12p that was demonstrated postnatally in approximately 50% of cultured skin fibroblasts. Given that the patient did not show the congenital overgrowth typical of PKS, we speculate that ART might have restricted overgrowth in this particular case. More broadly, we hypothesize that overgrowth might protect from early demise fetuses conceived by ART, a technology known to cause low and very low birth weight. © 2004 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/DF1E0CED8386A6BE80742FBF8D6A82D948C21A2D/fulltext/pdf

DOI: 10.1002/ajmg.a.30300

Affiliations:

Links toward previous steps (curation, corpus...)

to stream Istex, to step Corpus: 006863
to stream Istex, to step Curation: 006863
to stream Istex, to step Checkpoint: 002141
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to stream Main, to step Curation: 008C54

Le document en format XML

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<front><div type="abstract" xml:lang="en">We report on a boy with Pallister–Killian syndrome (PKS) who was conceived by assisted reproductive technology (ART), specifically in vitro fertilization (IVF) with parents' gametes. A prenatal diagnosis performed elsewhere by CVS failed to detect the presence of the isochromosome 12p that was demonstrated postnatally in approximately 50% of cultured skin fibroblasts. Given that the patient did not show the congenital overgrowth typical of PKS, we speculate that ART might have restricted overgrowth in this particular case. More broadly, we hypothesize that overgrowth might protect from early demise fetuses conceived by ART, a technology known to cause low and very low birth weight. © 2004 Wiley‐Liss, Inc.</div>
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Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister–Killian syndrome

Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister–Killian syndrome

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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