Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24)

Annals of Human Genetics

Volumn 70, Issue 6, 2006, Pages 958-964

  Gadzicki, Dorothea ^a   Baumer, A ^b   Wey, E ^b   Happel, C M ^a   Rudolph, C ^a   Tonnies H ^c   Neitzel, H ^c   Steinemann, D ^a   Welte, K ^a   Klein, C ^a   Schlegelberger, B ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

11q terminal deletion; Beckwith Wiedemann syndrome; inv(11)(p15q24); Jacobsen syndrome; Parental chromosomal rearrangement; Pericentric inversion; Subtelomere FISH

Indexed keywords

DNA; POTASSIUM CHANNEL KCNQ1; RNA H19;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 11P; CHROMOSOME 11Q; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; COMORBIDITY; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART DISEASE; CORPUS CALLOSUM AGENESIS; DNA METHYLATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HUMAN; INFANT; JACOBSEN SYNDROME; KARYOTYPE 46,XY; KARYOTYPING; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MONOSOMY; PARTIAL TRISOMY; PERICENTRIC CHROMOSOME INVERSION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SKULL MALFORMATION; STRUCTURAL CHROMOSOME ABERRATION; TELOMERE; THROMBOCYTOPENIA; URETHRA STENOSIS;

ABNORMALITIES, MULTIPLE; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 11; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INVERSION, CHROMOSOME; KARYOTYPING; MALE; PHENOTYPE; SYNDROME; TRISOMY;

EID: 33749551444     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2006.00271.x     Document Type: Article

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