Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

American Journal of Medical Genetics, Part A

Volumn 143, Issue 15, 2007, Pages 1760-1766

  Mikhail, Fady M ^a,c   Sathienkijkanchai, Achara ^a   Robin, Nathaniel H ^a,b   Prucka, Sandra ^a   Biggerstaff, Julie Sanford ^e   Komorowski, Jan ^d   Andersson, Robin ^d   Bruder, Carl E G ^a,d   Piotrowski, Arkadiusz ^a,d   De Ståhl, Teresita Diaz ^d   Dumanski, Jan P ^a,d   Carroll, Andrew J ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b University of Alabama at Birmingham   (United States)

^c ALEXANDRIA UNIVERSITY   (Egypt)

^d UPPSALA UNIVERSITY   (Sweden)

^e SACRED HEART MEDICAL CENTER   (United States)

Author keywords

11p; 4p; Array CGH; Beckwith Wiedemann syndrome (BWS); Fluorescence in situ hybridization (FISH); Unbalanced translocation; Wolf Hirschhorn syndrome (WHS)

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 11P; CHROMOSOME 4P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYDRONEPHROSIS; INFANT; KARYOTYPE; MICROARRAY ANALYSIS; PARENT; PHENOTYPE; PRIORITY JOURNAL; WOLF HIRSCHHORN SYNDROME;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; PHENOTYPE; SEQUENCE DELETION; TRANSLOCATION, GENETIC; WOLF-HIRSCHHORN SYNDROME;

EID: 34547670920     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31821     Document Type: Article

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