Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome.
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
P
Istituto di Genetica Medica, Facoltà di Medicina "A. Gemelli," Università Cattolica del S. Cuore, Roma, Italy.
Bajer
J
J
Tabolacci
E
E
Pomponi
M G
MG
Lecce
R
R
Zollino
M
M
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000782:Aneuploidy; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D019465:Craniofacial Abnormalities; D004423:Ear / Q000002:abnormalities; D005307:Fertilization in Vitro; D006801:Humans; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D027724:Reproductive Techniques, Assisted; D013577:Syndrome