Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister-Killian syndrome
| Autor: | Rosetta Lecce, Pietro Chiurazzi, Giovanni Neri, Marcella Zollino, Maria Grazia Pomponi, Jolanta Bajer, Elisabetta Tabolacci |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Male
medicine.medical_specialty Reproductive Techniques Assisted medicine.medical_treatment Isochromosome Prenatal diagnosis Fertilization in Vitro Intracytoplasmic sperm injection Craniofacial Abnormalities Pallister–Killian syndrome Ulnar–mammary syndrome Internal medicine Humans Medicine Abnormalities Multiple Genetics (clinical) Chromosomes Human Pair 12 Assisted reproductive technology Mosaicism business.industry Obstetrics Infant Newborn Infant Ear Syndrome Infant Low Birth Weight Aneuploidy medicine.disease Low birth weight Endocrinology Karyotyping Overgrowth syndrome medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics. :315-316 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.a.30300 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|