Methylation-specific PCR allows for fast diagnosis of X chromosome disomy and reveals skewed inactivation of the X chromosome in men with klinefelter syndrome

Journal of Andrology

Volumn 33, Issue 5, 2012, Pages 955-962

  Mehta, Akanksha ^a   Malek Jones, Matthew ^a   Bolyakov, Alexander ^a,b   Mielnik, Anna ^a   Schlegel, Peter N ^a   Paduch, Darius A ^a,b  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b Consulting Research Services Inc ^*  (United States)

Author keywords

Polymerase chain reaction; Prenatal genetic diagnosis

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DISOMY; EARLY DIAGNOSIS; HUMAN; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; MALE; MENTAL DEFICIENCY; METHYLATION SPECIFIC POLYMERASE CHAIN REACTION; MOLECULAR DIAGNOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELIABILITY; SENSITIVITY AND SPECIFICITY; X CHROMOSOME; X CHROMOSOME DISOMY; X CHROMOSOME INACTIVATION; X LINKED MENTAL RETARDATION; DNA METHYLATION; ECONOMICS; FEMALE; GENETIC SCREENING; GENETICS; KARYOTYPING; METHODOLOGY; PREDICTIVE VALUE; REPRODUCIBILITY; RETROSPECTIVE STUDY;

FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN; LONG UNTRANSLATED RNA; XIST NON CODING RNA; XIST NON-CODING RNA;

CHROMOSOMES, HUMAN, X; DNA METHYLATION; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; GENETIC TESTING; HUMANS; KARYOTYPING; KLINEFELTER SYNDROME; MALE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES; RNA, LONG UNTRANSLATED; SENSITIVITY AND SPECIFICITY; X CHROMOSOME INACTIVATION;

EID: 84864470764     PISSN: 01963635     EISSN: 19394640     Source Type: Journal    
DOI: 10.2164/jandrol.111.016030     Document Type: Article

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