Document Detail


Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature.
MedLine Citation:
PMID:  20305547     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Tetraploidy is a very rare finding in live-born infants. Nine infants with tetraploidy have been reported earlier. The phenotype is of variable severity and consists of prenatal and/or postnatal growth retardation, developmental delay, mental retardation, dysmorphic features, and skeletal and internal abnormalities. Here we present a girl aged 2 years and 7 months with a mosaic tetraploidy detected in lymphocytes, and a newborn boy with a complete tetraploidy, who died 30 h after birth. They both show growth retardation, microcephaly, developmental delay, and craniofacial dysmorphisms. The clinical features of 22 patients reported earlier are reviewed.
Authors:
Irina Stefanova; Jutta Jenderny; Elke Kaminsky; Anca Mannhardt; Peter Meinecke; Liliana Grozdanova; Gabriele Gillessen-Kaesbach
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  19     ISSN:  1473-5717     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-06-09     Completed Date:  2010-09-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  123-7     Citation Subset:  IM    
Affiliation:
Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany. Irina.Stefanova@uk-sh.de
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Female
Humans
Infant
Infant, Newborn
Live Birth / genetics*
Male
Mosaicism*
Polyploidy*
Young Adult

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