De Novo 12;17 translocation upstream of sox9 resulting in 46,xx testicular disorder of sex development

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 422-426

  Refai, Osama ^a   Friedman, Andrew ^a   Terry, Lori ^b   Jewett, Tamison ^b   Pearlman, Alexander ^a   Perle, Mary Ann ^a   Ostrer, Harry ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

12:17 translocation; 46,xx testicular dsd; Arraycgh analysis; FISH; Sex determination; SOX9

Indexed keywords

TRANSCRIPTION FACTOR SOX9; UPSTREAM STIMULATORY FACTOR;

ARTICLE; CASE REPORT; CHROMOSOME 12; CHROMOSOME 17; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; GENETIC VARIABILITY; GONAD DEVELOPMENT; HUMAN; KARYOTYPE 46,XX; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; PSEUDOGENE; SEXUAL DEVELOPMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC CELL; TELOMERE; TESTIS DISEASE; UPREGULATION;

CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; SEX DETERMINATION (GENETICS); SEXUAL DEVELOPMENT; SOX9 TRANSCRIPTION FACTOR; TELOMERE; TESTIS; TRANSLOCATION, GENETIC;

EID: 75449089508     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33201     Document Type: Article

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