Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions

Benjamin Kamien; M Cristina Digilio; Antonio Novelli; Sheridan O'Donnell; Nicole Bain; Cliff Meldrum; Tracy Dudding-Byth; Rodney J Scott; Himanshu Goel

doi:10.1016/j.ejmg.2015.10.006

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions

Eur J Med Genet. 2015 Nov;58(11):629-33. doi: 10.1016/j.ejmg.2015.10.006. Epub 2015 Oct 23.

Authors

Benjamin Kamien¹, M Cristina Digilio², Antonio Novelli³, Sheridan O'Donnell⁴, Nicole Bain⁵, Cliff Meldrum⁵, Tracy Dudding-Byth⁶, Rodney J Scott⁷, Himanshu Goel⁶

Affiliations

¹ 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.
² Department of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
³ Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
⁴ Hunter Genetics, Newcastle, New South Wales, Australia.
⁵ Molecular Medicine, Pathology North, Newcastle, New South Wales, Australia.
⁶ Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.
⁷ The University of Newcastle, School of Biomedical Sciences and Pharmacy, Newcastle, New South Wales, Australia; Molecular Medicine, Pathology North, Newcastle, New South Wales, Australia.

PMID: 26475974
DOI: 10.1016/j.ejmg.2015.10.006

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.

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.

Publication types

Case Reports

MeSH terms

Adolescent
Child
Chromosome Deletion*
Chromosomes, Human, Pair 13 / genetics*
Growth Disorders / diagnosis
Growth Disorders / genetics*
Heart Diseases / diagnosis
Heart Diseases / genetics*
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Male
Megalencephaly / diagnosis
Megalencephaly / genetics*
Syndrome