Article
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.
American journal of human genetics - 1 Mar 1993
Tharapel A T, Anderson K P, Simpson J L, Martens P R, Wilroy R S, Llerena J C, Schwartz C E
Abstract excerpt
During a routine prenatal diagnosis we detected a female fetus with an apparent terminal deletion of an X chromosome with a karyotype 46,X,del(X)(q25); the mother, who later underwent premature ovarian failure, had the same Xq deletion. To further delineate this familial X deletion and to determine whether the deletion was truly terminal or, rather, interstitial (retaining a portion of the terminal Xq28), we used...
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