Molecular characterization of a monosomy 1p36 presenting as an aicardi syndrome phenocopy

American Journal of Medical Genetics, Part A

Volumn 149, Issue 11, 2009, Pages 2493-2500

  Bursztejn, Anne Claire ^a   Bronner, Myriam ^b   Peudenier, Sylviane ^c   Grégoire, Marie José ^b   Jonveaux, Philippe ^a,b   Nemos, Christophe ^a  

^a UNIVERSITÉ DE LORRAINE   (France)

^b CHU NANCY BRABOIS   (France)

^c BREST UNIVERSITY HOSPITAL   (France)

Author keywords

1p36 monosomy; aCGH; Aicardi syndrome; Phenocopy

Indexed keywords

AICARDI SYNDROME; ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 1P; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CORPUS CALLOSUM AGENESIS; DIFFERENTIAL DIAGNOSIS; DNA SCREENING; EEG ABNORMALITY; ELECTROENCEPHALOGRAM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC TRAIT; HUMAN; HYPERTRICHOSIS; INFANTILE SPASM; MENTAL DEFICIENCY; MICROSATELLITE MARKER; MONOSOMY; MONOSOMY 1P36; OOCYTE DEVELOPMENT; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SKELETON MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MONOSOMY; PARENTS; PHENOTYPE; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 70449360099     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33051     Document Type: Article

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