caa a22 4500 467985871 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194216 doi (NATIONALLICENCE)springer-10.1007/BF00194216 The critical region on the human Xq [Elektronische Daten] [Eeva Therman, Renata Laxova, Barbara Susman] Summary: Adult female carriers of balanced X; autosome translocations (118 cases) and of balanced X inversions (31 cases) have been collected from the literature. Forty-five of the 118 translocation carriers in whom the break was in the critical region (Xq13-q22, Xq22-q26, separated by a narrow region within Xq22) showed gonadal dysgenesis. Seven of the 31 inversion carriers in whom the break was in the same region also had gonadal dysgenesis, whereas the remaining 24 were normal in this respect. The critical region consists mainly of Q-bright material, and is the fifth brightest segment in the human genome. The region contains relatively few genes. It is possible that meiotic crossing-over, rarely, if ever, takes place in it. The critical region may therefore consist of two "supergenes” whose integrity must be maintained to allow normal ovarian development. The effect exerted by this region differs from other known position effects, in that it is independent of the break-point within the region and of the chromosome bands to which the broken ends are attached. One possible mechanism causing this effect might be a change in the replication order of the chromosome bands, which, in turn, might affect their function. Springer-Verlag, 1990 Therman Eeva Department of Medical Genetics, University of Wisconsin, 53706, Madison, WI, USA aut Laxova Renata Department of Medical Genetics, University of Wisconsin, 53706, Madison, WI, USA aut Susman Barbara Department of Medical Genetics, University of Wisconsin, 53706, Madison, WI, USA aut Human Genetics Springer-Verlag 85/5(1990-10-01), 455-461 0340-6717 85:5<455 1990 85 439 https://doi.org/10.1007/BF00194216 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194216 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Therman Eeva Department of Medical Genetics, University of Wisconsin, 53706, Madison, WI, USA aut NATIONALLICENCE 700 1- Laxova Renata Department of Medical Genetics, University of Wisconsin, 53706, Madison, WI, USA aut NATIONALLICENCE 700 1- Susman Barbara Department of Medical Genetics, University of Wisconsin, 53706, Madison, WI, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 455-461 0340-6717 85:5<455 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer