Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization

European Journal of Clinical Investigation

Volumn 39, Issue 8, 2009, Pages 729-737

  Guo, Q S ^a   Qin, S Y ^c   Zhou, S F ^b   He, L ^a,c   Ma, D ^a   Zhang, Y P ^a   Xiong, Y ^a   Peng, T ^a   Cheng, Y ^a   Li, X T ^a  

^a FUDAN UNIVERSITY   (China)

^b RMIT UNIVERSITY   (Australia)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Array comparative genomic hybridization; Spectral karyotyping; Unbalanced translocation

Indexed keywords

ABDOMINAL RADIOGRAPHY; ADULT; ADULTHOOD; ARTICLE; CASE REPORT; CHILDHOOD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION X; COMPARATIVE GENOMIC HYBRIDIZATION; FATTY LIVER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENE REPLICATION; GENE TRANSLOCATION; GENOTYPE PHENOTYPE CORRELATION; GYNECOLOGICAL EXAMINATION; HUMAN; MENTAL DEFICIENCY; MONOSOMY X; OBESITY; PARTIAL MONOSOMY; PARTIAL TRISOMY; PHENOTYPE; PHYSIOLOGICAL PROCESS; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; REPLICATION STUDY; REPRODUCTION; SEXUAL DEVELOPMENT; SPECTRAL KARYOTYPING; STIMULUS RESPONSE; TERATOLOGY; X CHROMOSOME INACTIVATION;

ADULT; CHROMOSOMES, HUMAN, X; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; OVARIAN FAILURE, PREMATURE; PHENOTYPE; SPECTRAL KARYOTYPING; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 68149147491     PISSN: 00142972     EISSN: 13652362     Source Type: Journal    
DOI: 10.1111/j.1365-2362.2009.02141.x     Document Type: Article

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