Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype

We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype–phenotype correlation between individual microarray and clinical findings adds to the emerging...

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Detalles Bibliográficos
Autores principales: Marinescu, Ponnila S, Saller, Devereux N, Parks, W Tony, Yatsenko, Svetlana A, Rajkovic, Aleksandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352360/
https://www.ncbi.nlm.nih.gov/pubmed/25767704
http://dx.doi.org/10.1002/ccr3.162
Descripción
Sumario:We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype–phenotype correlation between individual microarray and clinical findings adds to the emerging atlas of chromosomal abnormalities associated with specific prenatal ultrasound abnormalities.

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