Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

American Journal of Medical Genetics

Volumn 134 A, Issue 1, 2005, Pages 39-44

  Philip, N ^a,b   Colleaux, L ^c   Sigaudy, S ^a   Attie Bitach T ^c   Missirian, C ^a   Moncla, A ^a,b   Mattei, M G ^b   Bollini, G ^a  

^a TIMONE HOSPITAL   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

BMP2A; Chromosomal rearrangement; Vertebral fusion; Vertebral synostoses

Indexed keywords

DNA; NOGGIN;

ADULT; ARTICLE; BMP2A GENE; CASE REPORT; CHROMOSOME 10P; CHROMOSOME 20P; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 20; CLAVICLE; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; NOGGIN GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOULNAR JOINT; RIB MALFORMATION; SPINE RADIOGRAPHY; SYNOSTOSIS; THORAX RADIOGRAPHY; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BONE MORPHOGENETIC PROTEINS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 20; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; SPINE; TIME FACTORS; TRANSLOCATION, GENETIC;

EID: 15744374436     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30468     Document Type: Article

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