Document Detail

Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome.
MedLine Citation:
PMID:  20664186     Owner:  NLM     Status:  MEDLINE    
The identification of trisomy mosaicism in the prenatal setting is often shrouded with uncertainty for the genetic counsellor, and more importantly for the parents. The outcomes for these pregnancies may well be normal, but abnormalities and even in utero death are possibilities depending on the chromosomal abnormality and the degree of mosaicism. Advice to parents following the diagnosis of trisomy 16 mosaicism at chorionic villus sampling, with confirmation at subsequent amniocentesis, and in the setting of apparently normal fetal ultrasonography, is necessarily cautious. Malformations are seen in the majority of infants born following a diagnosis of mosaic trisomy 16 at amniocentesis, and intrauterine growth retardation, with postnatal catch-up, is the rule. We report here a case with a normal outcome by age 2.5 years and in fact with above-average language ability, and in whom trisomy mosaicism was confirmed postnatally.
D Coman; R J M Gardner; M D Pertile; P Kannu
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-07-21
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  28     ISSN:  1421-9964     ISO Abbreviation:  Fetal. Diagn. Ther.     Publication Date:  2010  
Date Detail:
Created Date:  2010-08-27     Completed Date:  2010-12-21     Revised Date:  2011-12-06    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  117-8     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2010 S. Karger AG, Basel.
Genetics Health Services Victoria, The Royal Children's Hospital, Melbourne, Victoria, Australia.
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MeSH Terms
Child Development
Child, Preschool
Chorionic Villi Sampling*
Chromosomes, Human, Pair 16 / genetics
Fetal Growth Retardation / genetics,  ultrasonography
Infant, Newborn
Trisomy* / diagnosis,  genetics

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