9号染色体完全三体。另外两例。
Complete trisomy 9. Two additional cases.
作者信息
Delicado A, Iñiguez L, Lopez Pajares I, Omeñaca F
出版信息
Ann Genet. 1985;28(1):63-6.
PMID:3874593
Abstract
Two infants with complete trisomy of chromosome 9 are described. One patient, died a few minutes after birth and another survived 24 hours. The main clinical findings in this syndrome are: intrauterine growth retardation, characteristic facial dysmorphism, hypoplastic external genitalia and malformations of heart, brain and skeleton.
摘要
本文描述了两名患有9号染色体完全三体性的婴儿。一名患者出生后几分钟死亡，另一名存活了24小时。该综合征的主要临床特征为：宫内生长迟缓、特征性面部畸形、外生殖器发育不全以及心脏、脑和骨骼畸形。
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引用本文的文献
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Case report: A case report and literature review of complete trisomy 9.病例报告：9号染色体完全三体的病例报告及文献综述
Front Genet. 2023 Aug 31;14:1241245. doi: 10.3389/fgene.2023.1241245. eCollection 2023.
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