Fertility in a i(Xq) Klinefelter patient: Importance of XIST expression level determined by qRT-PCR in ruling out Klinefelter cryptic mosaicism as cause of oligozoospermia

Molecular Human Reproduction

Volumn 14, Issue 11, 2008, Pages 635-640

  Stabile, M ^a,b   Angelino, T ^b   Caiazzo, F ^b   Olivieri, P ^b   De Marchi, N ^c   De Petrocellis, L ^d   Orlando, P ^e  

^a Medical Genetic Department   (Italy)

^b Genetic Counseling Center 'Zigote'   (Italy)

^c Agenzia Regionale Sanitaria della Campania   (Italy)

^d CNR   (Italy)

^e INSTITUTE OF PROTEIN BIOCHEMISTRY   (Italy)

Author keywords

Fertility; Isochromosome Xq; Klinefelter syndrome; XIST expression

Indexed keywords

ANDROGEN RECEPTOR; BROXURIDINE; FOLLITROPIN; GENE PRODUCT; INHIBIN B; PROTEIN XIST; RNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME POSITIONING; CHROMOSOME REPLICATION; CHROMOSOME XQ; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DICENTRIC CHROMOSOME; DNA METHYLATION; EMBRYO TRANSFER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION PROFILING; GENE LOCUS; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN CELL; INTRACYTOPLASMIC SPERM INJECTION; ISOCHROMOSOME X; KLINEFELTER SYNDROME; MALE; MALE FERTILITY; MOSAICISM; NUCLEOTIDE SEQUENCE; OLIGOSPERMIA; PATHOGENESIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEMEN ANALYSIS; SEX CHROMOSOME MOSAICISM; TESTIS WEIGHT; X CHROMATIN; X CHROMOSOME INACTIVATION;

ADULT; CHROMOSOMES, HUMAN, X; FEMALE; FERTILITY; GENE EXPRESSION REGULATION; HUMANS; KLINEFELTER SYNDROME; MALE; OLIGOSPERMIA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, UNTRANSLATED;

EID: 57649148571     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gan057     Document Type: Article

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