Document Detail


Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis.
MedLine Citation:
PMID:  12210576     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present six cases of 47,+i(5p)/46 mosaicism diagnosed at chorionic villus sampling (CVS), this being the first prospective series to be reported. The clinical indication in each was advanced maternal age. Further prenatal studies in four (amniocentesis, plus fetal blood sampling in one) did not show the isochromosome. In one case, subsequent amniocentesis showed 1/48 in situ colonies with the isochromosome, but fetal blood was karyotypically normal. These five pregnancies resulted in phenotypically normal livebirths; further normal follow-up reports (from age 4 months through 4 years) are noted in four of these. Analysis of placental tissue in one case confirmed the presence of the i(5p) mosaicism. In the remaining case, in which 100% of CVS cultured cells had the i(5p), the pregnancy was terminated. Fetal skin fibroblasts did not show the i(5p). Thus, in none of these six cases was true fetal mosaicism detected, nor an abnormal phenotype noted. We suggest that a 47,+i(5p)/46 karyotype, detected at CVS, may frequently reflect confined placental mosaicism. In addition, we report a case of the primary diagnosis of 47,+i(5p)/46 mosaicism at amniocentesis. The infant appeared normal at birth, but a brain malformation was subsequently identified.
Authors:
Susan Clement Wilson; Marleen Susman; Sharon Bain; Monica Wohlferd; Daniel L Van Dyke; Art Daniel; Beverly White; R J McKinlay Gardner
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  22     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2002 Aug 
Date Detail:
Created Date:  2002-09-04     Completed Date:  2003-02-13     Revised Date:  2004-11-18    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  681-5     Citation Subset:  IM    
Copyright Information:
Copyright 2002 John Wiley & Sons, Ltd.
Affiliation:
Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. Wilsonclem@aol.com
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MeSH Terms
Descriptor/Qualifier:
Adult
Amniocentesis*
Brain / abnormalities
Cells, Cultured
Chorionic Villi Sampling*
Chromosomes, Human, Pair 5*
Female
Humans
Infant, Newborn
Isochromosomes / genetics*
Maternal Age
Mosaicism*
Phenotype
Pregnancy
Pregnancy Outcome
Pregnancy, High-Risk
Comments/Corrections
Comment In:
Prenat Diagn. 2003 Jan;23(1):82-5   [PMID:  12533823 ]

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


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