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

Prenatal Diagnosis

Volumn 35, Issue 3, 2015, Pages 299-301

  Macera, M J ^a   Sobrino, A ^a   Levy, B ^b   Jobanputra, V ^b   Aggarwal, V ^b   Mills, A ^a   Esteves, C ^a   Hanscom, C ^c   Pereira, S ^d   Pillalamarri, V ^c   Ordulu, Z ^d,e   Morton, C C ^d,e   Talkowski, M ^c   Warburton, D ^b  

^a NewYork Presbyterian Hospital   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; AMNIOCENTESIS; ARTICLE; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME G BAND; CHROMOSOME TRANSLOCATION; CHROMOTHRIPSIS; COLPOCEPHALY; CORPUS CALLOSUM; CORPUS CALLOSUM AGENESIS; CYTOGENETICS; DEVELOPMENTAL DISORDER; DNA END JOINING REPAIR; ECHOGRAPHY; ENVIRONMENTAL EXPOSURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; GENOME; HISTOPATHOLOGY; HUMAN; KARYOTYPING; MICROARRAY ANALYSIS; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX CHROMOSOME; ABNORMALITIES, MULTIPLE; CHROMOSOME DISORDERS; DNA MICROARRAY; DNA SEQUENCE; GENE TRANSLOCATION; GENETICS; PREGNANCY;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DISORDERS; FEMALE; GENOME; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC;

EID: 84924240766     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4456     Document Type: Article

References (8)

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