Document Detail

Heteromorphism 18ph+ : with or without reproductive consequences?
MedLine Citation:
PMID:  11694226     Owner:  NLM     Status:  MEDLINE    
Heteromorphism or chromosomal variants are usually attributed to structural variations in constitutive heterochromatin. In the case of chromosome 18, 25 cases of 18ph+ have been reported to date. Using the Primed In Situ Labelling technique (PRINS) to study 2 new cases of 18ph+, we have been able to confirm their molecular nature and assuming a mechanism of formation. Although such chromosomal variants are usually thought to have no adverse clinical consequence, a review of the literature shows that many cases were diagnosed because of recurrent abortion, malformed or mentally retarded children suggesting the possible relationship between 18ph+ and such clinical outcomes.
A C Tabet; J M Dupont; A Lebbar; M H Couturier-Turpin; G Feldmann; D Rabineau
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annales de génétique     Volume:  44     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:    2001 Jul-Sep
Date Detail:
Created Date:  2001-11-05     Completed Date:  2002-01-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  France    
Other Details:
Languages:  eng     Pagination:  139-42     Citation Subset:  IM    
Service d'Histologie-Embryologie-Cytogénétique et Biologie Cellulaire, Hôpital Bichat-Cl. Bernard, 46, Rue Henri Huchard, 75018, Paris, France.
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MeSH Terms
Amniotic Fluid / metabolism
Chromosome Aberrations*
Chromosome Banding
Chromosomes, Human, Pair 18*
Hydrocephalus / genetics
Lymphangioma, Cystic / genetics
Mental Retardation / genetics
Prenatal Diagnosis

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