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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2000-3-9
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pubmed:abstractText |
A syndrome of mental retardation and multiple congenital anomalies, including craniosynostosis and overgrowth, was observed in two related individuals from a large kindred. Both of them carried a 15q25.1-qter trisomy associated with a subtle 13qter monosomy resulting from unbalanced segregation of a familial t(13;15)(q34;q25.1) translocation. Reportedly, a further individual in this kindred has the same condition. The present report confirms previous claims that gene(s) in the distal 15q region play a role in suture formation. At the same time it adds new data to the delineation of a 15q25-qter trisomy syndrome.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0148-7299
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 1999 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
22
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pubmed:volume |
87
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
391-4
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:10594876-Adolescent,
pubmed-meshheading:10594876-Adult,
pubmed-meshheading:10594876-Chromosome Banding,
pubmed-meshheading:10594876-Chromosomes, Human, Pair 13,
pubmed-meshheading:10594876-Chromosomes, Human, Pair 15,
pubmed-meshheading:10594876-Craniosynostoses,
pubmed-meshheading:10594876-Dermatoglyphics,
pubmed-meshheading:10594876-Developmental Disabilities,
pubmed-meshheading:10594876-Facies,
pubmed-meshheading:10594876-Female,
pubmed-meshheading:10594876-Gene Duplication,
pubmed-meshheading:10594876-Humans,
pubmed-meshheading:10594876-In Situ Hybridization, Fluorescence,
pubmed-meshheading:10594876-Intellectual Disability,
pubmed-meshheading:10594876-Karyotyping,
pubmed-meshheading:10594876-Male,
pubmed-meshheading:10594876-Pedigree,
pubmed-meshheading:10594876-Syndrome,
pubmed-meshheading:10594876-Translocation, Genetic,
pubmed-meshheading:10594876-Trisomy
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pubmed:year |
1999
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pubmed:articleTitle |
Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome.
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pubmed:affiliation |
Istituto di Genetica Medica, Facoltà di Medicina "A. Gemelli," Università Cattolica del Sacro Cuore, Rome, Italy. mzollino@rm.unicatt.it
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pubmed:publicationType |
Journal Article,
Case Reports
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