| Partial monosomy 15q due to de novo t(15;22)(q15;p11). | |
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MedLine Citation:
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PMID: 3322163 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a 2-years-old infant who presented psychomotor delay and facial dysmorphic features. He has a partial monosomy of 15q resulting from de novo t(15;22)(q15;p11). Up to now three other cases with a similar 15q monosomy have been reported, but the present case is the first one with a "pure" monosomy 15q. |
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Authors:
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M A Mori; L Rodriguez; I Pinel; J M Casas; A Diaz de Bustamante; M L Martinez-Frias |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Annales de génétique Volume: 30 ISSN: 0003-3995 ISO Abbreviation: Ann. Genet. Publication Date: 1987 |
Date Detail:
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Created Date: 1988-02-11 Completed Date: 1988-02-11 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0370562 Medline TA: Ann Genet Country: FRANCE |
Other Details:
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Languages: eng Pagination: 246-8 Citation Subset: IM |
Affiliation:
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Spanish Colaborative Study of Congenital Malformations, ECEMC, Catedra de Anatonia II, Facultad de Medicina, Universidad Complutense, Madrid. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 15* Humans Male Monosomy* Translocation, Genetic |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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