Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin.
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.
Hoo
J J
JJ
Department of Pediatrics, SUNY Health Science Center, Syracuse 13210, USA.
Chao
M
M
Szego
K
K
Rauer
M
M
Echiverri
S C
SC
Harris
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D000705:Anaphase; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008957:Models, Genetic