Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin.
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.
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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