Document Detail

Amniocentesis can be useful during the third trimester of pregnancy for antenatal diagnosis of Pallister-Killian syndrome: a case report.
MedLine Citation:
PMID:  21995162     Owner:  NLM     Status:  In-Process    
Pallister-Killian syndrome (PKS) is an extremely rare genetic disease characterized cytogenetically by tetrasomy 12p mosaicism. We recently encountered a case of maternal hydramnios associated with congenital diaphragm hernia according to the prenatal diagnosis. Prenatal diagnosis revealed a non-mosaic 47, XY, i(12)(p10) karyotype at amniocentesis of G-band and M-FISH analysis. We performed chromosomal analysis in both interphase and metaphase cells from a cord blood lymphocyte specimen. Mosaic tetrasomy of chromosome 12p was supported by G-banding or FISH analysis. When fetal observations are performed in detail using 2D/3D US, PKS may be diagnosed. In addition, it is effective to perform amniocentesis during the third trimester of pregnancy.
M Murakami; T Iwasa; Y Takahashi; M Morine
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical and experimental obstetrics & gynecology     Volume:  38     ISSN:  0390-6663     ISO Abbreviation:  Clin Exp Obstet Gynecol     Publication Date:  2011  
Date Detail:
Created Date:  2011-10-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7802110     Medline TA:  Clin Exp Obstet Gynecol     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  269-71     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Kagawa National Children's Hospital, Kagawa, Japan.
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