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Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin.
Hoo, J J; Chao, M; Szego, K; Rauer, M; Echiverri, S C; Harris, C.
Affiliation
  • Hoo JJ; Department of Pediatrics, SUNY Health Science Center, Syracuse 13210, USA.
Am J Med Genet ; 58(4): 299-304, 1995 Sep 25.
Article in En | MEDLINE | ID: mdl-8533837
ABSTRACT
We present 4 recently diagnosed cases of inverted tandem duplication with involvement of the respective terminal band. Based on these 4 cases and review of the literature, the term "inverted terminal duplication" is proposed to designate specifically the type of inverted tandem duplication which involves the terminal band. A modification of the previous hypothesis of mechanism of origin is advanced. It is speculated further that a telomeric deletion of a meiotic chromosome followed by a U-type reunion of the chromatids, considered to be the first steps of the proposed mechanism of origin, may not be a rare gonadal event.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Chromosomes, Human, Pair 7 / Chromosomes, Human, Pair 8 / Chromosomes, Human, Pair 10 / Chromosome Aberrations / Chromosome Inversion / Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Newborn Language: En Journal: Am J Med Genet Year: 1995 Document type: Article Affiliation country: United States
Search on Google
Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Chromosomes, Human, Pair 7 / Chromosomes, Human, Pair 8 / Chromosomes, Human, Pair 10 / Chromosome Aberrations / Chromosome Inversion / Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Newborn Language: En Journal: Am J Med Genet Year: 1995 Document type: Article Affiliation country: United States