Source:http://linkedlifedata.com/resource/pubmed/id/11694226
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2001-11-5
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
0003-3995
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
44
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
139-42
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:11694226-Amniotic Fluid,
pubmed-meshheading:11694226-Chromosome Aberrations,
pubmed-meshheading:11694226-Chromosome Banding,
pubmed-meshheading:11694226-Chromosomes, Human, Pair 18,
pubmed-meshheading:11694226-Female,
pubmed-meshheading:11694226-Humans,
pubmed-meshheading:11694226-Hydrocephalus,
pubmed-meshheading:11694226-Intellectual Disability,
pubmed-meshheading:11694226-Karyotyping,
pubmed-meshheading:11694226-Lymphangioma, Cystic,
pubmed-meshheading:11694226-Pregnancy,
pubmed-meshheading:11694226-Prenatal Diagnosis
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pubmed:articleTitle |
Heteromorphism 18ph+ : with or without reproductive consequences?
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pubmed:affiliation |
Service d'Histologie-Embryologie-Cytogénétique et Biologie Cellulaire, Hôpital Bichat-Cl. Bernard, 46, Rue Henri Huchard, 75018, Paris, France. anne-claude.tabet@worldonline.fr
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pubmed:publicationType |
Journal Article,
Case Reports
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