一名无颅缝早闭患儿的7号染色体短臂2区2带1亚带至末端的新发缺失
De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.
作者信息
Speleman F, Craen M, Leroy J
机构信息
Department of Medical Genetics, University Hospital Ghent, Belgium.
出版信息
J Med Genet. 1989 Aug;26(8):528-32. doi: 10.1136/jmg.26.8.528.
Abstract
A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.
摘要
本文描述了一名患有7号染色体短臂（p22.1-pter）新发末端缺失的患者。面部畸形、先天性心脏缺陷和生殖器发育不全明显。没有颅缝早闭的迹象。我们的观察证实，7p22缺失不一定与颅缝早闭相关。
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