Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.

Macera, M J; Sobrino, A; Levy, B; Jobanputra, V; Aggarwal, V; Mills, A; Esteves, C; Hanscom, C; Pereira, S; Pillalamarri, V; Ordulu, Z; Morton, C C; Talkowski, M; Warburton, D

Macera, M J; Sobrino, A; Levy, B; Jobanputra, V; Aggarwal, V; Mills, A; Esteves, C; Hanscom, C; Pereira, S; Pillalamarri, V; Ordulu, Z; Morton, C C; Talkowski, M; Warburton, D.

Affiliation

Macera MJ; New York Presbyterian Hospital, Columbia University Medical Center, New York, NY, USA.

Prenat Diagn ; 35(3): 299-301, 2015 Mar.

Article in En | MEDLINE | ID: mdl-25043231

Subject(s)

Abnormalities, Multiple/genetics; Chromosome Disorders/genetics; Abnormalities, Multiple/diagnosis; Adult; Chromosome Disorders/diagnosis; Female; Genome; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Oligonucleotide Array Sequence Analysis; Pregnancy; Prenatal Diagnosis; Sequence Analysis, DNA; Translocation, Genetic

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Chromosome Disorders Type of study: Diagnostic_studies Limits: Adult / Female / Humans / Pregnancy Language: En Journal: Prenat Diagn Year: 2015 Document type: Article

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