A novel 800kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1453-1457

  Banka, Siddharth ^a   Fitzgibbon, Gregory J ^b   Gaunt, Lorraine ^b   Rankin, Wendy J ^c   Clayton Smith, Jill ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c Wythenshawe Health Care Centre   (United Kingdom)

Author keywords

15q13 deletion; 16q22 duplication; Epilepsy; Learning difficulties; Obesity; Second hit hypothesis; Short toes; SNTB2; Tapering fingers; WWP2

Indexed keywords

ETHOSUXIMIDE; ETIRACETAM;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME 16Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONSCIOUSNESS DISORDER; DROWSINESS; ELECTROENCEPHALOGRAM; EPILEPSY; FAMILY; FEBRILE CONVULSION; FEMALE; HUMAN; INFANT; LEARNING DISORDER; MALE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TONIC CLONIC SEIZURE; ADULT; CASE REPORT; CHROMOSOME 15; CHROMOSOME 16; CHROMOSOME DISORDER; GENETICS; PATHOLOGY; PEDIGREE; PHENOTYPE;

ADOLESCENT; ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 16; EPILEPSY; FEMALE; HUMANS; LEARNING DISORDERS; MALE; PEDIGREE; PHENOTYPE;

EID: 79956205656     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34034     Document Type: Article

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