期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 161A, 期 3, 页码 572-577出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.35691
关键词
congenital heart defect; SilverRussell syndrome; 11p15 ICR1 hypomethylation; total anomalous pulmonary venous return; cor triatriatum
SilverRussell syndrome (SRS) is characterized by pre- and post-natal growth restriction that spares head growth, feeding difficulties, and variable dysmorphic facial features without major malformations. Hypomethylation of the paternal 11p15 imprinting control region 1 (ICR1) and maternal uniparental disomy of chromosome 7 are found in 5060% and in 510% of SRS patients, respectively. We report on the pre- and post-natal features of three unrelated SRS patients with unusual congenital heart defects (CHDs). Two patients born prematurely had total anomalous pulmonary venous return and died shortly after birth, and a third patient, now 4 years old, had cor triatriatum sinistrum, which was surgically corrected. In all three patients, the underlying molecular defect was 11p15 ICR1 hypomethylation. Based on a large cohort with molecularly proven SRS, the prevalence of CHD in SRS is estimated at 5.5%. We suggest that the occurrence of CHD in SRS with 11p15 ICR1 hypomethylation is not coincidental, but specific to this genotype. (c) 2013 Wiley Periodicals, Inc.
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