caa a22 4500 467983763 CHVBK 20180323112525.0 cr unu---uuuuu 170328e19900301xx s 000 0 eng 10.1007/BF00196232 doi (NATIONALLICENCE)springer-10.1007/BF00196232 Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome [Elektronische Daten] [Malgorzata Schmidt, Andrea Certoma, Desirée Du Sart, Paul Kalitsis, Margaret Leversha, Kerry Fowler, Leslie Sheffield, Ian Jack, David Danks] Summary: A de novo interstitial deletion (X)(q27.1q27.3), between the loci DXS 105 and F8, has been found in a mentally retarded female. The deleted X chromosome is preferentially early replicating in fibroblasts, B cells and T cells, suggesting that the missing region plays a role in inactivation of the X chromosome. None of the available DNA probes except DXS 98 maps to the deleted region of about 10000kb. The locus FRAXA is either included in the deletion, or located close to the distal break point. Springer-Verlag, 1990 Schmidt Malgorzata The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut Certoma Andrea The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut Du Sart Desirée The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut Kalitsis Paul The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut Leversha Margaret The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut Fowler Kerry The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut Sheffield Leslie The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut Jack Ian The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut Danks David The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut Human Genetics Springer-Verlag 84/4(1990-03-01), 347-352 0340-6717 84:4<347 1990 84 439 https://doi.org/10.1007/BF00196232 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00196232 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Schmidt Malgorzata The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Certoma Andrea The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Du Sart Desirée The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Kalitsis Paul The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Leversha Margaret The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Fowler Kerry The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Sheffield Leslie The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Jack Ian The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Danks David The Murdoch Institute, Royal Children's Hospital, Flemington Road, 3052, Melbourne, Victoria, Australia aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/4(1990-03-01), 347-352 0340-6717 84:4<347 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer