Branchio-otic syndrome caused by a genomic rearrangement: Clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8

Cytogenetic and Genome Research

Volumn 142, Issue 1, 2013, Pages 1-6

  Schmidt, T ^a,e   Bierhals, T ^b   Kortum F ^b   Bartels, I ^a   Liehr, T ^c   Burfeind, P ^a   Shoukier, M ^a   Frank, V ^d   Bergmann, C ^d   Kutsche, K ^b  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c JENA UNIVERSITY HOSPITAL   (Germany)

^d Bioscientia Center for Human Genetics   (Germany)

^e UNIVERSITY OF WITTEN HERDECKE   (Germany)

Author keywords

Branchio otic syndrome; Branchio oto renal syndrome; EYA1 gene; Pericentric inversion of chromosome 8

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIO OTIC SYNDROME; CASE REPORT; CHROMOSOME 8; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME MAP; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; EYA1 GENE; FACE DYSMORPHIA; FEMALE; FISTULA; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; KARYOTYPE 46,XX; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PERICENTRIC CHROMOSOME INVERSION; PERICENTRIC CHROMOSOME INVERSION 8; PREAURICULAR FISTULA; PRIORITY JOURNAL; BRANCHIOOTORENAL SYNDROME; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MAPPING; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC COUNSELING; HAPLOINSUFFICIENCY; HEARING AID; HIGH ARCHED PALATE; HIGH RESOLUTION MULTICOLOR BANDING; INNER EAR MALFORMATION; KIDNEY AGENESIS; MIDDLE EAR MALFORMATION; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; PERCEPTION DEAFNESS; PERIORBITAL EDEMA; SCANTY HAIR; SOUTHERN BLOTTING;

GENOMIC DNA;

EID: 84891154916     PISSN: 14248581     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000355436     Document Type: Article

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