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.
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.


CONCLUSIONS
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.
Senzaki
Hideaki
H
Department of Paediatric Cardiology, Saitama Heart Institute, Saitama Medical School Hospital, 38 Morohongo, Moroyama, Japan. hsenzaki@saitama-med.ac.jp
Inui
Mika
M
Ban
Shin-Ichi
S
Masutani
Satoshi
S
Morsy
Mofeed
M
Kobayashi
Toshiki
T
Nagasaka
Hironori
H
Sasaki
Nozomu
N
Kyo
Shunei
S
Yokote
Yuji
Y
D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans