Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells.

Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different methods.

[Prenatal molecular diagnosis of a DMD carrier female fetus by chorionic villus sampling and linkage analysis].

Background: Duchenne muscular dystrophy (DMD) is the most frequent inherited and lethal neuromuscular disorder in humans. Molecular prenatal diagnosis of DMD through amniocentesis is a real preventive reproductive option in our country, although experience with chorionic villus sampling is still limited (CVS).

Objective: Perform the first prenatal diagnosis in an obligate DMD carrier woman in Mexico by CVS.