| Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome. | |
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MedLine Citation:
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PMID: 15378537 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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P Chiurazzi; J Bajer; E Tabolacci; M G Pomponi; R Lecce; M Zollino; G Neri |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 130A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2004 Oct |
Date Detail:
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Created Date: 2004-09-24 Completed Date: 2005-02-08 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 315-6 Citation Subset: IM |
Affiliation:
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Istituto di Genetica Medica, Facoltà di Medicina "A. Gemelli," Università Cattolica del S. Cuore, Roma, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology* Aneuploidy Chromosomes, Human, Pair 12 / genetics Craniofacial Abnormalities Ear / abnormalities Fertilization in Vitro Humans Infant Infant, Low Birth Weight* Infant, Newborn Karyotyping Male Mosaicism Reproductive Techniques, Assisted* Syndrome |
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