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.

Chiurazzi, P., Bajer, J. A., Tabolacci, E., Pomponi, M. G., Lecce, R., Zollino, M., Neri, G., Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome, <<AMERICAN JOURNAL OF MEDICAL GENETICS>>, 2004; (Ottobre): 315-316 [http://hdl.handle.net/10807/32729]

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

Chiurazzi, Pietro;Bajer, Jolanta Alina;Tabolacci, Elisabetta;Pomponi, Maria Grazia;Lecce, Rosetta;Zollino, Marcella;Neri, Giovanni
2004

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.
Inglese
Chiurazzi, P., Bajer, J. A., Tabolacci, E., Pomponi, M. G., Lecce, R., Zollino, M., Neri, G., Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome, <>, 2004; (Ottobre): 315-316 [http://hdl.handle.net/10807/32729]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/32729
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact