Jj. Hoo et al., 4 NEW CASES OF INVERTED TERMINAL DUPLICATION - A MODIFIED HYPOTHESIS OF MECHANISM OF ORIGIN, American journal of medical genetics, 58(4), 1995, pp. 299-304
We present 4 recently diagnosed cases of inverted tandem duplication w
ith involvement of the respective terminal band, Based on these 4 case
s and review of the literature, the term ''inverted terminal duplicati
on'' is proposed to designate specifically the type of inverted tandem
duplication which involves the terminal band, A modification of the p
revious hypothesis of mechanism of origin is advanced, It is speculate
d further that a telomeric deletion of a meiotic chromosome followed b
y 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.
(C) 1995 Wiley-Liss, Inc.