Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 314-318

  Balasubramanian, M ^a   Smith, K ^a   Mordekar, S R ^a   Parker, M J ^a  

^a SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

16p13.11 microdeletion syndrome; Array CGH; Epilepsy; Mental retardation

Indexed keywords

BOTULINUM TOXIN; STEROID; VALPROIC ACID; VIGABATRIN;

ARTICLE; CASE REPORT; CHROMOSOME 16P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONSTIPATION; ECHOCARDIOGRAPHY; FLATFOOT; FLUORESCENCE IN SITU HYBRIDIZATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANTILE SPASM; KARYOTYPE 46,XY; KYPHOSIS; MALE; NEWBORN; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PERCEPTION DEAFNESS; PHENOTYPE; VAGINAL DELIVERY; VALGUS DEFORMITY; WEST SYNDROME;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; SPASMS, INFANTILE;

EID: 79955468664     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.01.008     Document Type: Article

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