De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

American Journal of Medical Genetics

Volumn 117 A, Issue 3, 2003, Pages 207-211

  Battisti, C ^a   Bonaglia, M C ^b   Giglio, S ^c   Anichini, C ^a   Pucci, L ^a   Dotti, M T ^a   Zuffardi, O ^c   Federico, A ^a,d  

^a UNIVERSITY OF SIENA   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

Axillary pterigium; Camptodactily; Chromosome rearrangements; Mental retardation

Indexed keywords

ARTICLE; AXILLARY PTERYGIUM; BONE RADIOGRAPHY; CAMPTODACTYLY; CASE REPORT; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 3; CHROMOSOME 4; CHROMOSOME 8; CHROMOSOME BREAKAGE; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 3; CLINICAL FEATURE; CRYPTORCHISM; DNA PROBE; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; IMAGE ANALYSIS; JOINT LAXITY; KYPHOSCOLIOSIS; MALE; MARFAN SYNDROME; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON MALFORMATION; BONE; CHILD; CONGENITAL MALFORMATION; FINGER; GENE TRANSLOCATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY;

ABNORMALITIES, MULTIPLE; BONE AND BONES; CHILD; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 8; FINGERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; TRANSLOCATION, GENETIC;

EID: 0042821994     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10149     Document Type: Article

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