Bogart M H, Cunniff C, Bradshaw C, Jones K L, Jones O W
Department of Medicine, University of California, San Diego 92093.
Am J Med Genet. 1990 May;36(1):53-5. doi: 10.1002/ajmg.1320360112.
Twenty-two cases of terminal deletions of the long arm of chromosome 7 have been reported. We present 5 new cases, 3 of which were ascertained due to fetal holoprosencephaly, one due to anencephaly, and one due to multiple structural defects in a 15-year-old boy. The presence of holoprosencephaly in 3 of the 5 cases reported herein and in 2 previously reported cases suggests that this manifestation may be commonly observed in individuals with deletion 7q.
