A girl with significant short stature undergoes karyotyping and is found to have the following chromosomal complement:46,XX, t(13;X)(q13.1;p22.33)[ie, a reciprocal balanced translocation between chromosomes 13q13.1 and Xp22.33].
A second girl with significant short stature undergoes karyotyping and is found to have the following chromosomal complement:45,X.Please review the literature around these karyotypes andexplainhow these two different chromosomal compliments have resulted in the same phenotype. Be sure tooutline the type of mutation/class of mutation(s) involved. Whatother phenotypic featureswould you recommend each girl is screened for?
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