Document Detail

Maternal uniparental heterodisomy for chromosome 16: case report.
MedLine Citation:
PMID:  9182779     Owner:  NLM     Status:  MEDLINE    
A patient with uniparental heterodisomy for chromosome 16 presented initially at prenatal diagnosis with a karyotype of 47, XX + 16 on chorionic villus sampling at 11 weeks gestation. The pregnancy was proceeding normally and follow up amniocentesis showed a normal female karyotype. At birth, the child was healthy, but had intrauterine growth retardation. She had unilateral talipes equinovarus and unilateral renal agenesis. Her growth had improved to within the normal range by age three years. On examination, she has epicanthic folds, a flat midface and almond shaped eyes. While these characteristics are not frankly abnormal, they are significantly different from other relatives in her family.
V Woo; P J Bridge; J S Bamforth
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  70     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Jun 
Date Detail:
Created Date:  1997-07-30     Completed Date:  1997-07-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  387-90     Citation Subset:  IM    
University of Toronto Medical School, University of Toronto, Ontario, Canada.
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MeSH Terms
Child, Preschool
Chromosome Aberrations / genetics*,  pathology
Chromosome Disorders
Chromosomes, Human, Pair 16 / genetics*
Fetal Growth Retardation / genetics,  pathology
Pregnancy Complications*
Trisomy / genetics,  pathology

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