Document Detail


Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16.
MedLine Citation:
PMID:  8261647     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Trisomy 16 is the most common trisomy in spontaneous abortions and is usually, if not always, lethal in the nonmosaic state. We report a liveborn infant with trisomy 16 mosaicism first diagnosed by amniocentesis at 20 weeks gestation. At birth, the infant was growth retarded and mildly dysmorphic. At age 14 months she was developmentally normal and had facial asymmetry. Her length, weight and head circumference were normal. Pure trisomy 16 was found in cells from the placenta. A normal female karyotype was found in lymphocytes from the infant. Skin fibroblasts revealed a trisomy 16 karyotype in 6 of 30 cells. Molecular analysis showed maternal uniparental heterodisomy, indicating that the trisomic conceptus arose from a nondisjunction of maternal meiosis. Fibroblasts may be the tissue of choice for detection of low-level trisomy 16 mosaicism.
Authors:
N M Lindor; S M Jalal; S N Thibodeau; D Bonde; K L Sauser; P S Karnes
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  44     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1993 Oct 
Date Detail:
Created Date:  1994-01-27     Completed Date:  1994-01-27     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  185-9     Citation Subset:  IM    
Affiliation:
Mayo Clinic, Rochester, MN.
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MeSH Terms
Descriptor/Qualifier:
Amniocentesis
Chromosome Aberrations*
Chromosomes, Human, Pair 16*
DNA / analysis
Female
Humans
Infant, Newborn
Mosaicism
Trisomy*
Chemical
Reg. No./Substance:
9007-49-2/DNA

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


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