Incidental findings on array comparative genomic hybridization: Detection of carrier females of dystrophinopathy without any family history

Clinical Genetics

Volumn 87, Issue 5, 2015, Pages 488-491

  Nguyen, K ^a   Putoux, A ^b,c   Busa, T ^a   Cordier, M P ^b   Sigaudy, S ^a   Till, M ^b   Chabrol, B ^a   Michel Calemard, L ^b   Bernard, R ^a   Julia, S ^d   Malzac, P ^a,e   Labalme, A ^b   Missirian, C ^a   Edery, P ^b,c   Popovici, C ^a   Philip, N ^a   Sanlaville, D ^b,c  

^a TIMONE HOSPITAL   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c UNIVERSITÉ LYON 1   (France)

^d TOULOUSE UNIVERSITY HOSPITAL   (France)

^e AIX MARSEILLE UNIVERSITY   (France)

Author keywords

aCGH; Dystrophin; Genetic counseling; Incidental findings; X linked

Indexed keywords

DYSTROPHIN;

ARTICLE; CAMPTODACTYLY; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CYSTIC FIBROSIS; DEVELOPMENTAL DISORDER; DYSTROPHIN GENE; DYSTROPHINOPATHY; FAMILY HISTORY; FATHER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; INCIDENTAL FINDING; IRIS COLOBOMA; LENNOX GASTAUT SYNDROME; MICROCEPHALY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PONS; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; X CHROMOSOMAL INHERITANCE; CASE REPORT; FAMILY; GENETICS; INFANT; MUSCULAR DYSTROPHIES;

CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DYSTROPHIN; FAMILY; FEMALE; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; INCIDENTAL FINDINGS; INFANT; MUSCULAR DYSTROPHIES;

EID: 84927003571     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12421     Document Type: Article

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