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

E Blondeel; D Molina-Gomes; P Bouhanna; D Fauvert; H Crosnier; H Dessuant; F Vialard

doi:10.1002/ccr3.71

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.

Authors

E Blondeel¹, D Molina-Gomes², P Bouhanna², D Fauvert², H Crosnier³, H Dessuant⁴, F Vialard¹

Affiliations

¹ Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France ; Versailles Saint-Quentin-en-Yvelines University Versailles, France.
² Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France.
³ Department of Paediatrics, Poissy Saint-Germain-en-Laye Hospital Poissy, France.
⁴ Cytogenetics Department, Biomnis Paris, France.

PMID: 25356259
PMCID: PMC4184603
DOI: 10.1002/ccr3.71

Abstract

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.