Document Detail


Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder.
MedLine Citation:
PMID:  17055193     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Imprinted genes are considered to play an important role in growth and early development but much of the research is based on animal studies. AIM: This study reports clinical data from a French population concerning prenatal, perinatal and postnatal complications in Prader-Willi syndrome (PWS), a genetically imprinted neurodevelopmental disorder associated with growth retardation, intellectual impairment and obesity. STUDY DESIGN: Data from family health records concerning prenatal, perinatal and postnatal complications were collected from 52 French people with the deletion form (DEL), and 34 French people with the maternal disomy form of PWS (UPD) and compared against national norms and between groups. RESULTS: Significant findings include: a history of miscarriage, high rate of polyhydramnios (12/34 UPD, 11/52 DEL), a high rate of induced labour, a high rate of Caesarian section (20/34 UPD, 26/52 DEL), small gestational age (10/34 UPD, 22/52 DEL), hypotonia (34/34 UPD, 49/52 DEL), and suckling deficit (25/34 UPD, 46/52 DEL). Significant differences between genetic subtypes include a higher rate of induced labour in UPD (27/34 UPD, 25/52 DEL), an increased risk of premature term in UPD (9/34 UPD vs. 4/52 DEL), raised maternal age in UPD (36.4 years vs. 29.3 years), low birth weight for newborns with a deletion form of PWS (girls 2.8 kg, boys 2.7 kg), a positive correlation between parental weight and offspring birth weight only for patients with UPD (UPD maternal: r=0.62, paternal: r=0.51). CONCLUSION: The results indicate significant intrauterine disturbance in PWS, particularly in PWS due to UPD, but a more significant weight disturbance for PWS due to deletion.
Authors:
Oenone Dudley; F Muscatelli
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-10-18
Journal Detail:
Title:  Early human development     Volume:  83     ISSN:  0378-3782     ISO Abbreviation:  Early Hum. Dev.     Publication Date:  2007 Jul 
Date Detail:
Created Date:  2007-06-04     Completed Date:  2007-07-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7708381     Medline TA:  Early Hum Dev     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  471-8     Citation Subset:  IM    
Affiliation:
NMDA, UMR CNRS 6156, Intitut de Biologie Moléculaire de Luminy (IBDML), Campus de Luminy, Case 907, 13288 Marseille, France. odudley@ibdml.univ-mrs.fr
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Child, Preschool
Chromosome Aberrations
DNA / analysis
Female
Fetal Growth Retardation / diagnosis,  etiology*
Genomic Imprinting*
Humans
Infant
Infant, Newborn
Infant, Newborn, Diseases / etiology
Male
Middle Aged
Prader-Willi Syndrome / complications*,  genetics
Pregnancy
Pregnancy Complications
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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