caa a22 4500 469044861 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799609 doi (NATIONALLICENCE)springer-10.1007/BF01799609 Malcolm S. Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut Molecular detection of altered X-inactivation patterns in the diagnosis of genetic disease [Elektronische Daten] [S. Malcolm] Summary: It is widely assumed that when a female carrier of a genetic disorder exhibits clinical signs of the disorder it is due to chance non-random X-inactivation in particular tissues. Recently molecular methods have become available for the analysis of X-chromosome inactivation status. These are based either on the methylation patterns of DNA from the active and inactive chromosomes or on the rescue of active X chromosomes in somatic cell hybrids. As a consequence of the molecular studies, it has become obvious that there are some special cases of non-random X-inactivation patterns. These include females carrying X-linked immunodeficiencies and, sometimes, one of a pair of identical female twins. SSIEM and Kluwer Academic Publishers, 1992 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 514-517 0141-8955 15:4<514 1992 15 10545 https://doi.org/10.1007/BF01799609 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799609 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Malcolm S. Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 514-517 0141-8955 15:4<514 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer