Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation

American Journal of Medical Genetics

Volumn 140 A, Issue 8, 2006, Pages 892-894

  Ferrero, Giovanni Battista ^a   Belligni, Elga ^a   Sorasio, Lorena ^a   Delmonaco, Angelo Giovanni ^a   Oggero, Roberto ^a   Faravelli, Francesca ^b   Pierluigi, Mauro ^b   Silengo, Margherita ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b GALLIERA HOSPITAL   (Italy)

Author keywords

16q trisomy; 9q monosomy; Agenesis of the corpus callosum; Developmental delay; Diaphragmatic hernia; Facial dysmorphism; Mental retardation

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 16Q; CHROMOSOME 9Q; CHROMOSOME TRANSLOCATION; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DIAPHRAGM HERNIA; DISEASE SEVERITY; DONNAI BARROW SYNDROME; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HIGH RISK PATIENT; HUMAN; HYPERMETROPIA; MALE; MENTAL DEFICIENCY; MONOSOMY; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 9; CORPUS CALLOSUM; DEVELOPMENTAL DISABILITIES; FEMALE; HERNIA, DIAPHRAGMATIC; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; SYNDROME; TRANSLOCATION, GENETIC;

EID: 33645560213     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31188     Document Type: Article

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