UNLABELLED: We report a case in which a 3-year-old girl with terminal deletion of the long arm of chromosome 3 had dilated cardiomyopathy, a complication that has not previously been reported in association with this chromosome abnormality. In addition to cardiomyopathy, she had intrauterine growth retardation, small eyes and mouth, a broad nose, thin lips, low-set ears, a short neck and overlapping second toes. CONCLUSION: due to the paucity of reported cases of 3q deletion, and the clinical variability of such cases, identification of a distinct 3q phenotype (including cardiac complications) remains elusive.
UNLABELLED: We report a case in which a 3-year-old girl with terminal deletion of the long arm of chromosome 3 had dilated cardiomyopathy, a complication that has not previously been reported in association with this chromosome abnormality. In addition to cardiomyopathy, she had intrauterine growth retardation, small eyes and mouth, a broad nose, thin lips, low-set ears, a short neck and overlapping second toes. CONCLUSION: due to the paucity of reported cases of 3q deletion, and the clinical variability of such cases, identification of a distinct 3q phenotype (including cardiac complications) remains elusive.
Authors: P Richardson; W McKenna; M Bristow; B Maisch; B Mautner; J O'Connell; E Olsen; G Thiene; J Goodwin; I Gyarfas; I Martin; P Nordet Journal: Circulation Date: 1996-03-01 Impact factor: 29.690
Authors: Majed J Dasouki; Gerald H Lushington; Karine Hovanes; James Casey; Mereceds Gorre Journal: Am J Med Genet A Date: 2011-05-27 Impact factor: 2.802