Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

Clinical Genetics

Volumn 84, Issue 1, 2013, Pages 78-81

  Kaltenbach, S ^a   Capri, Y ^a   Rossignol, S ^c   Denjoy, I ^a   Soudee S ^b   Aboura, A ^a   Baumann, C ^a   Verloes, A ^a,b,d  

^a Department of Genetics ^*  (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d University Sorbonne Paris Cite   (France)

Author keywords

11p15 translocation; Beckwith Wiedemann syndrome; KCNQ1; Long QT syndrome

Indexed keywords

POTASSIUM CHANNEL KCNQ1;

AMNION CELL; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHILD; CHROMOSOME 11; COPY NUMBER VARIATION; ELECTROCARDIOGRAM; FAMILY ASSESSMENT; FEMALE; FIRST TRIMESTER PREGNANCY; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENETIC ASSOCIATION; GENETIC SCREENING; HEART RHYTHM; HUMAN; HYDRAMNIOS; HYPOGLYCEMIA; KARYOTYPE; KARYOTYPE 46,XX; KIDNEY HYPERTROPHY; LONG QT SYNDROME; MACROGLOSSIA; MACROSOMIA; METHYLATION; NEWBORN MONITORING; OMPHALOCELE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; QT INTERVAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN BLOTTING;

BECKWITH-WIEDEMANN SYNDROME; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; HUMANS; INHERITANCE PATTERNS; KARYOTYPING; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; PEDIGREE; TRANSLOCATION, GENETIC;

EID: 84879799362     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12038     Document Type: Article

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