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- W79065180 abstract "Publisher Summary The phenotype associated with X-chromosome monosomy in humans can be summarized by (1) overwhelming fetal lethality, possibly associated with severe lymphedema; (2) a high incidence of short stature and gonadal dysgenesis; and (3) diverse dysmorphic and dysfunctional features of variable expression. Early phenotype-karyotype correlations from a series of patients revealed that X-chromosome loss with mosaicism results in a reduced frequency of major manifestations in comparison with X monosomy. Molecular assessment for the presence of mosaicism in spontaneous abortions has suggested absolute, fetoprotective effect of mosaicism. Loss of the short arm, determined cytogenetically, has been associated with short stature, whereas loss of the long arm almost universally results in ovarian dysgenesis of variable degrees. The overlap in features of long and short arm deletions remains perplexing, and the genes responsible for Turner syndrome have been difficult to localize. Novel banding methods and DNA techniques, while adding details to phenotype mapping of the X, have reinforced the marked phenotypic diversity associated with similar translocation or deletion breakpoints." @default.
- W79065180 created "2016-06-24" @default.
- W79065180 creator A5001402556 @default.
- W79065180 creator A5015441617 @default.
- W79065180 date "1994-01-01" @default.
- W79065180 modified "2023-10-16" @default.
- W79065180 title "Phenotypic Correlations of X-Chromosome Loss" @default.
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- W79065180 doi "https://doi.org/10.1016/b978-0-12-728960-1.50018-5" @default.
- W79065180 hasPublicationYear "1994" @default.
- W79065180 type Work @default.