A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene

Molecular Human Reproduction

Volumn 13, Issue 10, 2007, Pages 745-750

  Ottesen, Anne Marie ^a   Garn, I D ^a   Aksglaede, L ^a   Juul, A ^a   Rajpert De Meyts, E ^a  

^a Rigshospitalet   (Denmark)

Author keywords

Klinefelter syndrome; QPCR technique; Screening; X chromosome

Indexed keywords

ANDROGEN RECEPTOR;

ANEUPLOIDY; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; FEMALE; GENE EXPRESSION; GENETIC SCREENING; HUMAN; INTERMETHOD COMPARISON; KARYOTYPE 45,X; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KARYOTYPE 47,XXY; KARYOTYPING; KLINEFELTER SYNDROME; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REFERENCE VALUE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEX CHROMOSOME MOSAICISM; VALIDATION PROCESS; X CHROMOSOME ABERRATION;

ANEUPLOIDY; CHROMOSOMES, HUMAN, X; FEMALE; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; KLINEFELTER SYNDROME; MALE; POLYMERASE CHAIN REACTION; RECEPTORS, ANDROGEN; RNA, UNTRANSLATED;

EID: 35048853189     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gam053     Document Type: Article

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