Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation

Human Genetics

Volumn 131, Issue 1, 2012, Pages 121-130

  Sakazume, Satoru ^a   Ohashi, Hirofumi ^b   Sasaki, Yuki ^c   Harada, Naoki ^c   Nakanishi, Katsumi ^d   Sato, Hidenori ^d,e   Emi, Mitsuru ^d,e   Endoh, Kazushi ^f   Sohma, Ryoichi ^a   Kido, Yasuhiro ^a   Nagai, Toshiro ^a   Kubota, Takeo ^f  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^c LSI MEDIENCE CORPORATION   (Japan)

^d DNA CHIP RESEARCH INC   (Japan)

^e YAMAGATA UNIVERSITY   (Japan)

^f UNIVERSITY OF YAMANASHI   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; BISULFITE; BROXURIDINE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15; CHROMOSOME ANALYSIS; CHROMOSOME G BAND; CHROMOSOME REPLICATION; DEVELOPMENTAL DISORDER; DNA METHYLATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HYPOGONADISM; HYPOPIGMENTATION; KARYOTYPE 46,XY; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; PHENOTYPE; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME INACTIVATION;

BIOLOGICAL MARKERS; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, X; DNA METHYLATION; GENE EXPRESSION PROFILING; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPE; MALE; MEMBRANE TRANSPORT PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRADER-WILLI SYNDROME; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SNRNP CORE PROTEINS; TRANSLOCATION, GENETIC; X CHROMOSOME INACTIVATION;

EID: 84856676842     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1051-4     Document Type: Article

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