Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

Clinical Genetics

Volumn 81, Issue 2, 2012, Pages 128-141

  D'Amours, G ^a,b   Kibar, Z ^a   Mathonnet, G ^a   Fetni, R ^a,b   Tihy, F ^a,b   Desilets V ^a,b   Nizard, S ^a,b   Michaud, J L ^a,b   Lemyre, E ^a,b  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Array comparative genomic hybridization; Chromosome aberrations; Congenital abnormalities; Copy number variations; Fetus; Genotype; Phenotype correlations; Prenatal diagnosis; Prenatal ultrasonography

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CHROMOSOME 10Q; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE SEVERITY; FACE MALFORMATION; FEMALE; FETUS ECHOGRAPHY; FETUS MALFORMATION; FETUS MONITORING; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENETIC ANALYSIS; GESTATIONAL AGE; HOLOPROSENCEPHALY; HUMAN; INFANT; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MONOSOMY; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FETUS; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPE; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS;

EID: 84855976205     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01687.x     Document Type: Article

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