A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 615-621

  Busche, Andreas ^a   Klopocki, Eva ^a   Ullmann, Reinhard ^b   Mundlos, Stefan ^a,b   Horn, Denise ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Array CGH; Deletion 9q34.3; Duplication 2p25.2 p25.3; Mental retardation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 2P; CHROMOSOME 9Q; CHROMOSOME TRANSLOCATION; DISEASE ASSOCIATION; EXOPHTHALMOS; FEMALE; GENE DELETION; HUMAN; JOINT CONTRACTURE; PHENOTYPE; SPEECH DISCRIMINATION; TRISOMY; VERTICAL TRANSMISSION; WALKING DIFFICULTY;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 9; CONTRACTURE; EXOPHTHALMOS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PHENOTYPE; TRANSLOCATION, GENETIC;

EID: 56649097452     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.06.006     Document Type: Article

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