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Eur J Pediatr. 2003 Jun;162(6):403-5. Epub 2003 Mar 27.

Dilated cardiomyopathy in a 3-year-old girl with a terminal deletion, 46,XX,del(3)(q27-qter), of the long arm of chromosome 3.

Author information

1
Department of Paediatric Cardiology, Saitama Heart Institute, Saitama Medical School Hospital, 38 Morohongo, Moroyama, Japan. hsenzaki@saitama-med.ac.jp

Abstract

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.

PMID:
12684896
DOI:
10.1007/s00431-003-1160-8
[Indexed for MEDLINE]
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