Document Detail

Amniotic trisomy 11 mosaicism--is it a benign finding?
MedLine Citation:
PMID:  16810710     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS: Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cells. Karyotype studies and fluorescence in situ hybridization analysis using the 11q13LS1 CCND1 probe were performed. RESULTS: Trisomy 11 level III mosaicism of 26% was detected in amniotic fluid cells. Periumbilical blood sampling showed a normal fetal karyotype. No fetal structural abnormalities were noted on ultrasound scan. The infant was spontaneously delivered and had normal physical findings at birth. No evidence of trisomic cells was found on extensive postnatal evaluation, implying an extraembryonic origin. Molecular analysis excluded uniparental disomy of chromosome 11. At 1 year of age, the baby is developing normally. CONCLUSIONS: Only three reports on trisomy 11 mosaicism identified at amniocentesis have been published previously, all with a normal outcome. Additional cases of prenatally diagnosed mosaicism for trisomy 11 are necessary to assess more accurately the clinical significance of this finding.
Lina Basel-Vanagaite; Bella Davidov; Jane Friedman; Yosefa Yeshaya; Nurit Magal; Valerie Drasinover; Mordechai Shohat
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  26     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2006 Sep 
Date Detail:
Created Date:  2006-09-04     Completed Date:  2006-12-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  778-81     Citation Subset:  IM    
Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.
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MeSH Terms
Chromosomes, Human, Pair 11*
Trisomy / diagnosis*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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