MG-121 Complexity of phenotypes of females with unbalanced x-autosomal translocations exemplified by...
MG-121 Complexity of phenotypes of females with unbalanced x-autosomal translocations exemplified by a case with 46, x,der (x)t (x;16)(p11.2;p13.2) karyotype
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English
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BackgroundFemales with unbalanced X-autosomal translocations frequently exhibit skewed X-chromosome inactivation, as cells with the least functional imbalance have selective advantage. However, predicting the inactivation status of the translocated autosomal segment and its impact on phenotype is challenging. Active vs inactive state can depend on...
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MG-121 Complexity of phenotypes of females with unbalanced x-autosomal translocations exemplified by a case with 46, x,der (x)t (x;16)(p11.2;p13.2) karyotype
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TN_cdi_crossref_primary_10_1136_jmedgenet_2015_103578_21
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1136_jmedgenet_2015_103578_21
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2015-103578.21
