title: 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.
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.
authors.affiliation: Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France ; Versailles Saint-Quentin-en-Yvelines University Versailles, France.
authors.forename: E
authors.initials: E
authors.lastname: Blondeel
authors.affiliation: Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France.
authors.forename: D
authors.initials: D
authors.lastname: Molina-Gomes
authors.affiliation: Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France.
authors.forename: P
authors.initials: P
authors.lastname: Bouhanna
authors.affiliation: Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France.
authors.forename: D
authors.initials: D
authors.lastname: Fauvert
authors.affiliation: Department of Paediatrics, Poissy Saint-Germain-en-Laye Hospital Poissy, France.
authors.forename: H
authors.initials: H
authors.lastname: Crosnier
authors.affiliation: Cytogenetics Department, Biomnis Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Dessuant
authors.affiliation: Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France ; Versailles Saint-Quentin-en-Yvelines University Versailles, France.
authors.forename: F
authors.initials: F
authors.lastname: Vialard
keywords: CGH array; Léri Weill syndrome; genetic counseling; t(X; 15) chromosome translocation