Ring chromosome 7 and sacral agenesis

A ring chromosome 7 was found in a 19-month-old girl with microcephaly, gro wth and developmental delay, multiple angiomas, and partial sacral agenesis , Absent sacrum is a frequent finding in patients with 7q terminal deletion s; in fact, genes involved in the sacral agenesis are localized in 7q36, Ho wever, this anomaly was not described previously in patients with a ring ch romosome 7, High resolution G-banding chromosome and fluorescence in situ h ybridization (FISH) demonstrated that our patient lost this region during r ing formation. (C) 2000 Wiley-Liss, Inc.