期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 131A, 期 1, 页码 91-93出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.30315
关键词
chromosome 12p; total anomalous pulmonary venous return (TAPVR); ring 12p; fluorescent in situ hybridization (FISH); spectral karyotyping
An infant born with total anomalous pulmonary venous return (TAPVR) was found to have an extra chromosome present as a small ring. Spectral karyotyping and FISH analysis identified the material as a duplication involving the short arm of chromosome 12. Previous cases describing a variety of cytogenetic abnormalities that have been associated with TAPVR are reviewed along with prior cases of duplication 12p with their associated findings. We believe ours is the first case to report the occurrence of mosaic ring 12p and its association with TAPVR. (C) 2004 Wiley-Liss, Inc.
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