title: Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
abstract: Large chromosomal deletions from 13q13.3 to 13q21.3 have previously been associated with overgrowth. We present two patients with deletions at 13q14.2q14.3 who have macrocephaly, tall stature relative to their parents, cardiac phenotypes, and intellectual disability. This report narrows the critical region for tall stature, macrocephaly, and possibly cardiac disease.
authors.affiliation: Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia; The University of Newcastle, School of Biomedical Sciences and Pharmacy, Newcastle, New South Wales, Australia. Electronic address: ben.kamien@yahoo.com.au.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Kamien
authors.affiliation: Department of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Digilio
authors.affiliation: Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.affiliation: Hunter Genetics, Newcastle, New South Wales, Australia.
authors.forename: Sheridan
authors.initials: S
authors.lastname: O'Donnell
authors.affiliation: Molecular Medicine, Pathology North, Newcastle, New South Wales, Australia.
authors.forename: Nicole
authors.initials: N
authors.lastname: Bain
authors.affiliation: Molecular Medicine, Pathology North, Newcastle, New South Wales, Australia.
authors.forename: Cliff
authors.initials: C
authors.lastname: Meldrum
authors.affiliation: Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.
authors.forename: Tracy
authors.initials: T
authors.lastname: Dudding-Byth
authors.affiliation: The University of Newcastle, School of Biomedical Sciences and Pharmacy, Newcastle, New South Wales, Australia; Molecular Medicine, Pathology North, Newcastle, New South Wales, Australia.
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.affiliation: Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.
authors.forename: Himanshu
authors.initials: H
authors.lastname: Goel
mesh_terms: D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006331:Heart Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
keywords: ALG11; CKAP2; Chromosomal microdeletion; Chromosome 13q14.2; Chromosome 13q14.3; DHRS12; DLEU7; INTS6; LECT1; Macrocephaly; OLFM4; Overgrowth; PCDH8; SUGT1; THSD1; Tall stature; UTP14C; VPS36