De novo 5q35.5 duplication with clinical presentation of Sotos syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2501-2507

  Kasnauskiene, Jurate ^a   Cimbalistiene, Loreta ^a   Ciuladaite, Zivile ^a   Preiksaitiene, Egle ^a   Kučinskiene, Zita Aušrele ^a   Hettinger, Joe A ^b   Sismani, Carolina ^b   Patsalis, Philippos C ^b   Kučinskas, Vaidutis ^a  

^a VILNIUS UNIVERSITY   (Lithuania)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

ArrayCGH; Duplication; Overgrowth; Sotos syndrome

Indexed keywords

ARTICLE; ATAXIA; BODY HEIGHT; BODY WEIGHT; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME 5Q35.5 DUPLICATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONVULSION; COORDINATION DISORDER; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; DEMYELINATION; DEVELOPMENTAL DISORDER; DYSPHAGIA; FEEDING DISORDER; FEMALE; GENE; HEAD CIRCUMFERENCE; HEAD POSITION; HUMAN; HYDRAMNIOS; HYDROCEPHALUS; HYPOREFLEXIA; INFANT; JAUNDICE; KARYOTYPE 46,XX; MILLER DIEKER SYNDROME; MUSCLE HYPOTONIA; NEWBORN; NSD1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEPTUM PELLUCIDUM; SLEEP APNEA SYNDROME; SOTOS SYNDROME; STRIDOR;

BRAIN; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MAGNETIC RESONANCE IMAGING; NUCLEAR PROTEINS; PHENOTYPE; SOTOS SYNDROME;

EID: 80053122150     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34179     Document Type: Article

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