The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype

Andrology

Volumn 4, Issue 2, 2016, Pages 328-334

  Rocca, M S ^a   Pecile, V ^b   Cleva, L ^b   Speltra, E ^a   Selice, R ^a   Di Mambro, A ^a   Foresta, C ^a   Ferlin, A ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

Copy number variation; Klinefelter's syndrome; Microarrays

Indexed keywords

ARTICLE; CHROMOSOME DELETION X; CHROMOSOME DUPLICATION; CHROMOSOME SIZE; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; KLINEFELTER SYNDROME; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; X CHROMOSOMAL INHERITANCE; X CHROMOSOME; X CHROMOSOME INACTIVATION; GENE DOSAGE; GENETICS; GENOTYPE; PATHOPHYSIOLOGY; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMES, HUMAN, X; FEMALE; GENE DOSAGE; GENOTYPE; HUMANS; KLINEFELTER SYNDROME; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84959568129     PISSN: 20472919     EISSN: 20472927     Source Type: Journal    
DOI: 10.1111/andr.12146     Document Type: Article

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