title: Familial 7q11.23 duplication with variable phenotype.
abstract: Chromosomal microdeletions and microduplications are known to cause variable clinical features ranging from apparently normal phenotype to intellectual disability, multiple congenital anomalies, and/or other variable clinical features. 7q11.23 region deletion is the cause for Williams-Beuren syndrome and duplication of same region 7q11.23 causes distinguishable clinical phenotype. Familial inheritance is known for both microdeletion and microduplication of 7q11.23 region. Here, we report a patient of paternally inherited 7q11.23 microduplication with developmental delay, macrocephaly, and structural brain malformations.
authors.affiliation: Department of Medical Genetics, Narayana Multispecialty Hospital, Bangalore, India.
authors.forename: Siddaramappa J
authors.initials: SJ
authors.lastname: Patil
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Smrithi
authors.initials: S
authors.lastname: Salian
authors.affiliation: Department of Radiology, Narayana Multispecialty Hospital, Bangalore, India.
authors.forename: Venkaraman
authors.initials: V
authors.lastname: Bhat
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Katta Mohan
authors.initials: KM
authors.lastname: Girisha
authors.affiliation: Department of Pediatric Cardiology, Narayana Institute of Cardiac Sciences, Bangalore, India.
authors.forename: Yash
authors.initials: Y
authors.lastname: Shrivastava
authors.affiliation: Department of Pediatric Cardiology, Narayana Institute of Cardiac Sciences, Bangalore, India.
authors.forename: Kiran
authors.initials: K
authors.lastname: Vs
authors.affiliation: Department of Pediatrics, Narayana Multispecialty Hospital, Bangalore, India.
authors.forename: Anilkumar
authors.initials: A
authors.lastname: Sapare
mesh_terms: D058674:Chromosome Duplication / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype
keywords: 7q11.23 duplication; congenital heart disease; dsygenesis and hypoplasia corpus callosum; hypoplasia of left cerebellum; macrocephaly