Natural history of the recombinant (8) syndrome.
Natural history of the recombinant (8) syndrome.
复制标题
重组（8）综合征的自然史。
DOI：
10.1002/ajmg.1320470415
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
Robinson,A
中科院分区：
文献类型：
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作者：
Sujansky,E;Smith,AC;Prescott,KE;Freehauf,CL;Clericuzio,C;Robinson,A
重组体8 [Rec（8）]综合征[rec（8），（8 qter →8q22.1：：8p23.1→ 8 qter]是由亲本inv（8）（8 pter →8p23.1：：8q22.1→ 8 qter）引起的。我们研究的所有inv（8）父母都是西班牙裔。Rec（8）表型由一组特征性的轻微面部畸形、心血管和其他主要畸形以及中度至重度智力迟钝组成。在所有已发表的病例中，临床表型相对一致;然而，该疾病的自然史仍然未知。回顾性和前瞻性的信息42 propositi，跨度从5天到23年，使我们能够定义这种综合征的自然史，制表的频率和表型异常的演变，并分享我们的经验与不同的治疗方法。© 1993 Wiley利斯公司
The recombinant 8 [Rec(8)] syndrome [rec(8), (8qter→8q22.1::8p23.1→8qter] is due to a parental inv(8)(8pter→8p23.1::8q22.1→8p23.1::8q22.1→8qter). All inv(8) parents we have studied were of Hispanic origin. The Rec(8) phenotype consists of a characteristic set of minor facial anomalies, cardiovascular and other major malformations, and moderate to severe mental retardation. The clinical phenotype is relatively consistent in all published cases; however the natural history of the condition has remained unknown. Retrospective and prospective information on 42 propositi, spanning a period from 5 days to 23 years, allowed us to define the natural history of this syndrome, tabulate the frequency and the evolution of phenotypic abnormalities, and share our experience with different therapeutic approaches. © 1993 Wiley‐Liss, Inc.