A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2795-2800

  Liao, Jun ^a,b   Deward, Stephanie J ^c   Madan Khetarpal, Suneeta ^c   Surti, Urvashi ^a,b,d   Hu, Jie ^a,d  

^a UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

15q13.3 microdeletion; CHRNA7; Homozygous deletion; Microarray comparative genomic hybridization (array CGH)

Indexed keywords

ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CHILD; CHILD DEVELOPMENT; CHRNA7 GENE; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; ELECTROENCEPHALOGRAM; FAMILY HISTORY; FEMALE; GENE; GENETIC ASSOCIATION; GROWTH RETARDATION; HETEROZYGOSITY LOSS; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; KARYOTYPE 46,XX; MEDICAL HISTORY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; VISUAL IMPAIRMENT;

CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; ELECTROENCEPHALOGRAPHY; FEMALE; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTELLECTUAL DISABILITY; MUSCLE HYPOTONIA; PHENOTYPE; RECEPTORS, NICOTINIC; SEIZURES;

EID: 80054918557     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34237     Document Type: Article

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