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

KEY CLINICAL MESSAGE: 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. A...

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Detalles Bibliográficos
Autores principales: Blondeel, E, Molina-Gomes, D, Bouhanna, P, Fauvert, D, Crosnier, H, Dessuant, H, Vialard, F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184603/
https://www.ncbi.nlm.nih.gov/pubmed/25356259
http://dx.doi.org/10.1002/ccr3.71
Descripción
Sumario:KEY CLINICAL MESSAGE: 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.

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