Morey M A, Higgins R R
Division of Genetics, Children's Mercy Hospital, Kansas City, Missouri 64108.
Am J Med Genet. 1990 Jan;35(1):95-9. doi: 10.1002/ajmg.1320350118.
We describe a premature male infant with an interstitial deletion of 7q [46,XY,del(7) (pter----q21.3::q31.3----qter]. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3----q31.3 region are reviewed with emphasis on limb anomalies.
我们描述了一名患有7q间质缺失的早产男婴[46,XY,del(7)(pter----q21.3::q31.3----qter)]。临床表现包括下肢缺如、单侧缺指(趾)畸形、面部异常、牙龈增生、喂养问题和房间隔缺损。本文回顾了7号染色体q21.3----q31.3区域的缺失情况，重点关注肢体异常。
