Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype

European Journal of Human Genetics

Volumn 13, Issue 9, 2005, Pages 1040-1046

  Ars, Elisabet ^a,b   Tazón Vega, Barbara ^a   Ruiz, Patricia ^a   Nogués, Carme ^a   Arnedo, Núria ^a   Rajmil, Osvaldo ^a   Torra, Roser ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b FUNDACIÓ PUIGVERT   (Spain)

Author keywords

Alport syndrome; COL4A5 splicing mutation; Klinefelter syndrome; Linkage analysis; Male to male transmission; Sperm aneuploidy; X chromosome inactivation

Indexed keywords

ALPORT SYNDROME; ARTICLE; CASE REPORT; CLINICAL FEATURE; COL4A5 GENE; DISEASE TRANSMISSION; DISOMY; DNA EXTRACTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; HUMAN; KARYOTYPE; KLINEFELTER SYNDROME; LINKAGE ANALYSIS; MALE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; X CHROMOSOME; CHROMOSOME ANALYSIS; FATHER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC LINKAGE; GENETIC SCREENING; GENETICS; KARYOTYPING; METHODOLOGY; NEPHRITIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; X CHROMOSOME LINKED DISORDER; Y CHROMOSOME;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; CYTOGENETIC ANALYSIS; DNA MUTATIONAL ANALYSIS; FATHERS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; KLINEFELTER SYNDROME; LINKAGE (GENETICS); MALE; NEPHRITIS, HEREDITARY; PHENOTYPE;

EID: 27244435710     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201452     Document Type: Article

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