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Direct transmission of a tandem duplication in the short arm of chromosome 8.
Dhooge, C; Van Roy, N; Craen, M; Speleman, F.
Affiliation
  • Dhooge C; Department of Pediatrics, University Hospital, Ghent, Belgium.
Clin Genet ; 45(1): 36-9, 1994 Jan.
Article in En | MEDLINE | ID: mdl-8149650
A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial duplication of an autosomal chromosome segment.
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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 8 / Chromosome Aberrations Limits: Adult / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 1994 Document type: Article Affiliation country: Belgium Country of publication: Denmark
Search on Google
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 8 / Chromosome Aberrations Limits: Adult / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 1994 Document type: Article Affiliation country: Belgium Country of publication: Denmark