Document Detail

Preimplantation genetic diagnosis for Zellweger syndrome.
MedLine Citation:
PMID:  17336976     Owner:  NLM     Status:  MEDLINE    
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.
Moeen Al-Sayed; Saad Al-Hassan; Mohamed Rashed; Meshal Qeba; Serdar Coskun
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Publication Detail:
Type:  Journal Article     Date:  2007-03-06
Journal Detail:
Title:  Fertility and sterility     Volume:  87     ISSN:  1556-5653     ISO Abbreviation:  Fertil. Steril.     Publication Date:  2007 Jun 
Date Detail:
Created Date:  2007-06-04     Completed Date:  2007-09-14     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0372772     Medline TA:  Fertil Steril     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1468.e1-3     Citation Subset:  IM    
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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MeSH Terms
Birth Weight
Genetic Variation
Infant, Newborn
Preimplantation Diagnosis*
Zellweger Syndrome / diagnosis*,  genetics*

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