Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome

Pietro Chiurazzi, Elisabetta Tabolacci, Marcella Zollino, Jolanta Alina Bajer, Maria Grazia Pomponi, Rosetta Lecce, Giovanni Neri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

12 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)315-316
Numero di pagine2
RivistaAmerican Journal of Medical Genetics
Stato di pubblicazionePubblicato - 2004

Keywords

  • ART
  • Pallister-Killian Syndrome

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