Expansion of the deletion 13q syndrome phenotype: A case report

Journal of Child Neurology

Volumn 22, Issue 9, 2007, Pages 1124-1127

  Lance, Eboni I ^a   DuPont, Barbara R ^a   Holden, Kenton R ^a,b  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

Author keywords

13q; Chromosome; Deletion syndrome; Epilepsy; Mental retardation; Phenotype; Syndrome

Indexed keywords

ANTICONVULSIVE AGENT; PHENOBARBITAL; PHENYTOIN;

ARTICLE; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 13; CLINICAL FEATURE; EPICANTHUS; EPILEPSY; FACE ASYMMETRY; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HEAD CIRCUMFERENCE; HISPANIC; HONDURAS; HUMAN; HYPERTELORISM; KYPHOSIS; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; TONIC CLONIC SEIZURE; URINARY TRACT INFECTION;

BRAIN; CHILD; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; EPILEPSY; FACE; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KYPHOSIS; MENTAL RETARDATION; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; SKULL; SYNDROME;

EID: 34548684366     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807306257     Document Type: Article

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