47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region

Journal of Medical Genetics

Volumn 36, Issue 4, 1999, Pages 326-329

  Miyoshi, Osamu ^a   Kondoh, Tatsuro ^a   Taneda, Hiroshi ^b   Otsuka, Kojiro ^a   Matsumoto, Tadashi ^a   Niikawa, Norio ^a  

^a NAGASAKI UNIVERSITY   (Japan)

^b Department of Cardiovascular Surgery   (Japan)

Author keywords

Chromosome 7; Maternal uniparental disomy; Monosomy duplication; Silver Russell syndrome

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHROMOSOME 7P; CHROMOSOME MARKER; CHROMOSOME MOSAICISM; CHROMOSOME PAINTING; FEMALE; HUMAN; KARYOTYPE; MITOSIS; MONOSOMY 7; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 0032958525     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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