| The 18p- syndrome. Report of five cases. | |
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MedLine Citation:
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PMID: 2817777 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Five children, three males and two females were found to have a short arm deletion of chromosome 18. Four of them display some of the typical features of this syndrome: microcephaly, round face, hypertelorism, broad-based nose, "carp-mouth", microrethrognathia, pterygium colli, dysplastic and low set ears, clinodactily, failure to grow, muscular hypotony and mental retardation. Different hypotheses are discussed in order to explain the variable phenotypical expression of the 18 p-syndrome. |
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Authors:
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R M Zumel; M T Darnaude; A Delicado; A Diaz de Bustamante; M L de Torres; I López-Pájares |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Annales de génétique Volume: 32 ISSN: 0003-3995 ISO Abbreviation: Ann. Genet. Publication Date: 1989 |
Date Detail:
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Created Date: 1989-12-01 Completed Date: 1989-12-01 Revised Date: 2004-11-17 |
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: 160-3 Citation Subset: IM |
Affiliation:
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Sección de Genética Médica, Hospital La Paz, Madrid, España. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Agammaglobulinemia / genetics Child Child, Preschool Chromosome Aberrations / genetics*, pathology Chromosome Deletion* Chromosome Disorders Chromosomes, Human, Pair 18 / ultrastructure* Face / abnormalities Female Growth Disorders / genetics Humans IgA Deficiency Infant Infant, Newborn Male Mental Retardation / genetics* Pedigree Syndrome |
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