DUPLICATION OF THE SHORT ARM OF THE X-CHROMOSOME IN MOTHER AND DAUGHTER
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Data
1993-05-01
Autores
Tuckmuller, C. M.
Martinez, J. E.
Batista, DAS
Kearns, W. G.
Wertelecki, W.
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Springer
Resumo
An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter --> p22.3 = p22.3 --> cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromere-specific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11 % of her lymphocytes the duplicated X was active.
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Human Genetics. New York: Springer Verlag, v. 91, n. 4, p. 395-400, 1993.