| COFS syndrome with familial 1;16 translocation. | |
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MedLine Citation:
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PMID: 9001808 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on an Egyptian girl with phenotypic abnormalities of cerebro-oculofacio-skeletal syndrome. She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis and flexure contracture of the elbows and knees. CT scan showed bilateral symmetrical intracranial calcifications. In addition, she had an apparently balanced translocation: 46,XX,t(1;16)(q23;q13) in all cells transmitted from a phenotypically normal mother with a similar balanced translocation mosaicism. We suggest that genes for COFS syndrome could be located on chromosome 1q23 or 16q13. We recommend chromosomal analysis and DNA studies in cases with COFS manifestations. |
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Authors:
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S A Temtamy; N A Meguid; A Mahmoud; H H Afifi; A Gerzawy; M S Zaki |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 50 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1996 Oct |
Date Detail:
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Created Date: 1997-03-26 Completed Date: 1997-03-26 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 240-3 Citation Subset: IM |
Affiliation:
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Human Genetics Department, National Research Centre, Cairo, Egypt. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bone and Bones
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abnormalities Child, Preschool Chromosome Aberrations / genetics*, radiography Chromosome Disorders Consanguinity Craniofacial Abnormalities / genetics*, radiography Developmental Disabilities Female Humans Karyotyping Skull / radiography Syndrome Translocation, Genetic / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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