Clinical relevance of Y-linked CNV screening in male infertility: New insights based on the 8-year experience of a diagnostic genetic laboratory

European Journal of Human Genetics

Volumn 22, Issue 6, 2014, Pages 754-761

  Lo Giacco, Deborah ^a   Chianese, Chiara ^b   Sánchez Curbelo, Josvany ^a   Bassas, Lluis ^a   Ruiz, Patricia ^a   Rajmil, Osvaldo ^a   Sarquella, Joaquim ^a   Vives, Alvaro ^a   Ruiz Castañ́, Eduard ^a   Oliva, Rafael ^c,d   Ars, Elisabet ^a   Krausz, Csilla ^a,b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF BARCELONA   (Spain)

^d HOSPITAL CLÍNIC   (Spain)

Author keywords

AZFc duplications; gr gr deletion; male infertility; Y microdeletions; Y linked CNVs

Indexed keywords

ARTICLE; AZOOSPERMIA; CAUCASIAN; CHROMOSOME ABERRATION; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE DELETION; GENE REARRANGEMENT; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KARYOTYPE; KLINEFELTER SYNDROME; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POPULATION; PREDICTIVE VALUE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RISK FACTOR; SERTOLI CELL ONLY SYNDROME; SPAIN; SPERM; SPERM RETRIEVAL; SPERMATOGENESIS; SPERMATOZOON; SPERMATOZOON DENSITY; TESTICULAR SPERM EXTRACTION; Y CHROMOSOME; CHROMOSOME DELETION; GENE LOCUS; GENETICS; GENOTYPE; HAPLOTYPE; INFERTILITY, MALE; OLIGOSPERMIA; PROCEDURES; SPERMATOZOON COUNT;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, Y; DNA COPY NUMBER VARIATIONS; GENETIC LOCI; GENETIC TESTING; GENOTYPE; HAPLOTYPES; HUMANS; INFERTILITY, MALE; KARYOTYPE; MALE; OLIGOSPERMIA; PHENOTYPE; SPAIN; SPERM COUNT; SPERMATOGENESIS;

EID: 84901029820     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.253     Document Type: Article

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