Molecular Cytogenetic Analysis of a de novo Balanced X;Autosome Translocation: Evidence for Predominant Inactivation of the Derivative X Chromosome in a Girl with Multiple Malformations

American Journal of Medical Genetics

Volumn 126 A, Issue 3, 2004, Pages 229-236

  Glaser B ^a,b   Shirneshan, K ^a   Bink, K ^c   Wirth, J ^d   Kehrer Sawatzki, H ^b   Bartz, U ^a   Zoll, B ^a   Bohlander, Stefan K ^a,e  

^a Institute of Human Genetics   (Germany)

^b Institute of Human Genetics   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d BIELEFELD UNIVERSITY   (Germany)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Chromosomal breakpoint mapping; KIAA0215; Mental retardation; PHD zinc finger; RGN; X inactivation; X; 15 translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ARM; CHROMOSOME BANDING PATTERN; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CYTOGENETICS; EPSTEIN BARR VIRUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DISRUPTION; GENE EXPRESSION; HUMAN; KIAA0215 GENE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; NUCLEOTIDE SEQUENCE; P17 3 GENE; PRIORITY JOURNAL; RBM10 GENE; RGN GENE; RNU12 GENE; VIRUS REPLICATION; X CHROMOSOME INACTIVATION;

HUMAN HERPESVIRUS 4;

EID: 1842615143     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20584     Document Type: Article

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