Xq12-q13.3 duplication: Evidence of a recurrent syndrome

Annals of Neurology

Volumn 72, Issue 5, 2012, Pages 821-822

  Prontera, Paolo ^a   Ottaviani, Valentina ^a   Isidori, Ilenia ^a   Stangoni, Gabriela ^b   Donti, Emilio ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b Hospital of Perugia   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MONOCARBOXYLATE TRANSPORTER 8;

ANTEVERTED NOSTRIL; AUTISM; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME XQ; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DSM-IV-TR; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; FOCAL EPILEPSY; GENE EXPRESSION PROFILING; HUMAN; HYPOGONADISM; INFANT; LETTER; LONG PHILTRUM; MALE; MICROCEPHALY; MICROGNATHIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PALPEBRAL FISSURE ANOMALY; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE;

CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOMES, HUMAN, X; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE;

EID: 84871949382     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23754     Document Type: Letter

References (4)

1. Kaya N, Colak D, Albakheet A, et al. A novel X-linked disorder with developmental delay and autistic features. Ann Neurol 2012; 71: 498-508.
2. Wall DB, Esteban FJ, Deluca TF, et al. Comparative analysis of neurological disorders focuses genome-wide search for autism genes. Genomics 2009; 93: 120-129.
3. Diagnostic and statistical manual of mental disorders. 4th ed, text rev. Washington, DC: American Psychiatric Association, 2000.
4. Prontera P, Bernardini L, Stangoni G, et al. 2q31.2q32.3 deletion syndrome: report of an adult patient. Am J Med Genet A 2009; 149: 706-712.