title: Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.
abstract: We report on a child with de novo deletions involving the 7q11.23 (Williams syndrome) and 22q11.2 (Velocardiofacial/DiGeorge syndrome) regions. We describe the clinical features of this rare double microdeletion syndrome reported here for the first time.
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Kausik
authors.initials: K
authors.lastname: Mandal
authors.affiliation: Naryana Hrudayalaya Institute of Medical Sciences, Bangalore, Karnataka, India.
authors.forename: Siddaramappa J
authors.initials: SJ
authors.lastname: Patil
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Yougal
authors.initials: Y
authors.lastname: Kishore
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D008297:Male; D018980:Williams Syndrome / Q000235:genetics*
keywords: DiGeorge syndrome; Williams syndrome; chromosome 22q11.2 deletion syndrome; chromosome 7q11.23 microdeletion syndrome