Document Detail

Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies).
MedLine Citation:
PMID:  11903358     Owner:  NLM     Status:  MEDLINE    
Liveborn infants with tetraploidy are very rare in human pregnancies and usually die during the first days or months. Seven cases of liveborn infants with tetraploidy have previously been reported. Among them only two 92, XXXX infants survived for longer than 12 months. Here we report on the case of a 26-month-old girl with tetraploidy. The main clinical features of tetraploidy are facial dysmorphism, severely delayed growth and developmental delay. On the basis of molecular studies we discuss the possible origin of the additional chromosome sets in our proband. To our knowledge, this infant is the first reported case of tetraploidy who lived up to 26 months.
M Guc-Scekic; J Milasin; M Stevanovic; L J Stojanov; M Djordjevic
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  61     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2002 Jan 
Date Detail:
Created Date:  2002-03-20     Completed Date:  2002-08-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  62-5     Citation Subset:  IM    
Laboratory of Medical Genetics, Mother and Child Health Institute, Dr Vukan Cupic, Belgrade, Yugoslavia.
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MeSH Terms
Child, Preschool
Chromosome Aberrations*
DNA Replication
Developmental Disabilities / genetics*
In Situ Hybridization, Fluorescence
Muscle Hypotonia / genetics

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