| Preimplantation genetic diagnosis for Zellweger syndrome. | |
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MedLine Citation:
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PMID: 17336976 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To report on the first live birth of a normal child after performance of preimplantation genetic diagnosis (PGD) for Zellweger syndrome (ZS). DESIGN: Case report. SETTING: Tertiary-care hospital. PATIENT(S): A family with four children diagnosed with ZS, who were all born at term and who expired around 4 months of age. INTERVENTION(S): In vitro fertilization and preimplantation genetic diagnosis. MAIN OUTCOME MEASURE(S): Preimplantation genetic diagnosis of ZS in embryos, and live birth from the transferred normal embryos. RESULT(S): After PGD, two genotypically normal embryos were transferred back to the mother. Pregnancy ensued, and a healthy baby girl was delivered in week 40 of pregnancy. The baby was confirmed as genotypically wild-type, and free of any sign of ZS. CONCLUSION(S): To the best of our knowledge, this is the first successful PGD for ZS caused by mutation in PEX26 gene, with the subsequent delivery of a homozygous normal baby. |
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Authors:
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Moeen Al-Sayed; Saad Al-Hassan; Mohamed Rashed; Meshal Qeba; Serdar Coskun |
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Publication Detail:
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Type: Journal Article Date: 2007-03-06 |
Journal Detail:
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Title: Fertility and sterility Volume: 87 ISSN: 1556-5653 ISO Abbreviation: Fertil. Steril. Publication Date: 2007 Jun |
Date Detail:
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Created Date: 2007-06-04 Completed Date: 2007-09-14 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 0372772 Medline TA: Fertil Steril Country: United States |
Other Details:
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Languages: eng Pagination: 1468.e1-3 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Birth Weight Consanguinity Female Genetic Variation Humans Infant, Newborn Male Pedigree Pregnancy Preimplantation Diagnosis* Zellweger Syndrome / diagnosis*, genetics* |
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