染色体7短臂缺失，7p21----末端。
Chromosome 7 short arm deletion, 7p21----pter.
作者信息
Schömig-Spingler M, Schmid M, Brosi W, Grimm T
出版信息
Hum Genet. 1986 Nov;74(3):323-5. doi: 10.1007/BF00282559.
PMID:3781561
Abstract
A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21----pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.
摘要
本文报告了一例7号染色体短臂新发缺失的病例（46,XX,del(7)(p21----pter)）。该5个月大女童的主要症状为：三角头畸形伴颅缝早闭、额骨中部隆起、高腭弓、房间隔缺损、肛门闭锁和会阴瘘、拇指极度向尺侧近端插入以及精神运动发育轻度迟缓。同时对文献中描述的其他7号染色体短臂单体病例进行了综述。
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