A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 732-736

  Shimojima, Keiko ^a   Isidor, Bertrand ^b   Le Caignec, Cédric ^b,c   Kondo, Akiko ^d   Sakata, Shinji ^d   Ohno, Kousaku ^d   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b NANTES UNIVERSITY HOSPITAL   (France)

^c L INSTITUT DU THORAX   (France)

^d TOTTORI UNIVERSITY   (Japan)

Author keywords

5q31.3; Array based comparative genomic hybridization (aCGH); Developmental delay; Microdeletion; Neuregulin 2 (NRG2); Protocadherin (PCDH)

Indexed keywords

CADHERIN; CLONAZEPAM; HYDROCORTISONE; LAMOTRIGINE; PROTOCADHERIN; TOPIRAMATE; UNCLASSIFIED DRUG;

ANTEVERTED NOSTRIL; ARTICLE; ASPIRATION PNEUMONIA; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEMYELINATING DISEASE; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAPHY; EPILEPSY; FACE DYSMORPHIA; FACE EDEMA; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; FOREHEAD; GENE; GENE CLUSTER; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GROWTH RETARDATION; HEART VENTRICLE SEPTUM DEFECT; HIGH ARCHED PALATE; HUMAN; KARYOTYPE; LENNOX GASTAUT SYNDROME; LONG PHILTRUM; LOW SET EAR; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; NRG2 GENE; PATENT DUCTUS ARTERIOSUS; PCDHG GENE; PERIPHERAL NEUROPATHY; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; TUBE FEEDING;

BRAIN; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; GENE ORDER; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MYELIN SHEATH; PHENOTYPE; SYNDROME;

EID: 79953316388     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33891     Document Type: Article

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