Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 408-414

  Cottrell, Catherine E ^a,b   Sommer, Annemarie ^a,b   Wenger, Gail D ^a,b   Bullard, Steven ^c   Busch, Tamara ^c   Krahn, Katherine Nash ^d   Lidral, Andrew C ^c   Gastier Foster, Julie M ^a,b  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

1 translocation; DKC1; X; X chromosome inactivation; Xq28 functional disomy

Indexed keywords

ADULT; ARTICLE; AUTOSOME; CASE REPORT; CHROMOSOME TRANSLOCATION; CYTOGENETICS; DISOMY; DKC1 GENE; FEMALE; GENE; GENE EXPRESSION; GENE MAPPING; GENETIC DISORDER; HUMAN; HUMAN CELL; HUMAN TISSUE; MICROARRAY ANALYSIS; MOLECULAR GENETICS; OTOPALATODIGITAL SYNDROME; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; CELL CYCLE PROTEINS; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, X; DNA, COMPLEMENTARY; DOSAGE COMPENSATION, GENETIC; FEMALE; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TRANSLOCATION, GENETIC; UNIPARENTAL DISOMY; X CHROMOSOME INACTIVATION;

MAMMALIA;

EID: 61749100264     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32699     Document Type: Article

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