Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis

Cytogenetic and Genome Research

Volumn 119, Issue 1-2, 2007, Pages 158-164

  Bartsch, O ^a,f   Vlckova Z ^b   Erdogan, F ^c   Ullmann, R ^c   Novotna D ^b   Spiegel, M ^d   Beyer, V ^a   Haaf, T ^a   Zechner, U ^a   Seemanova E ^e  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d HUMBOLDT UNIVERSITY   (Germany)

^e CHARLES UNIVERSITY   (Czech Republic)

^f UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME 7P; CHROMOSOME DELETION; CHROMOSOME DELETION 17Q; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 7; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FAM62B GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HOARSENESS; HUMAN; HUMAN CELL; HUMAN TISSUE; MICRODELETION; NEUROFIBROMATOSIS; NF1 GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SYMPTOM; TELOMERE; TRISOMY; VIPR2 GENE; WDR60 GENE;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 7; CYTOGENETICS; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; NEUROFIBROMATOSES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TELOMERE;

EID: 37549060687     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000109634     Document Type: Article

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