Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation

Clin Case Rep. 2014 Jun;2(3):98-102. doi: 10.1002/ccr3.71. Epub 2014 May 5.


Translocations between X and acrocentric chromosomes are rare. We report on the inheritance of a familial t(X;15)(p22.3;p10) translocation in a fetus referred for short long bones. Cytogenetic analysis revealed an unbalanced translocation combined with a three-gene nullosomy. After genetic counseling, a prognosis was established and a healthy boy was delivered.

Keywords: CGH array; Léri Weill syndrome; genetic counseling; t(X; 15) chromosome translocation.