Rare rearrangements: A "jumping satellite" in one family and autosomal location of the SRY gene in an XX male

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2775-2781

  Chien, Shu Chin ^a   Li, Yueh Chun ^b   Ho, Ming ^a   Hsu, Pei Ching ^a   Teng, Ru Hsiou ^a   Lin, Wei De ^a   Tsai, Fuu Jen ^a   Lin, Chyi Chyang ^a,c  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Autosome translocation; Familial "jumping translocation"; Fluorescence in situ hybridization (FISH); Multiplex ligation dependent probe amplification (MLPA): Real time quantitative PCR (RT qPCR); Satellited Xp; Satellited Yp; XX male; YSRY+

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 3; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CONTROLLED STUDY; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; GENE LOCUS; GENE REARRANGEMENT; GENE SEQUENCE; HUMAN; KARYOTYPE 46,XX; MALE; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SRY GENE; TELOMERE; XX MALE;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; ELECTROPHORESIS; EXONS; FAMILY; FEMALE; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; PEDIGREE; PREGNANCY; SEX-DETERMINING REGION Y PROTEIN; TRANSLOCATION, GENETIC;

EID: 71949105699     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32958     Document Type: Article

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