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另外25例9号染色体三体嵌合体病例:出生信息、健康状况及发育状态

Twenty-five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status.

作者信息

Bruns Deborah A, Campbell Emily

机构信息

Southern Illinois University Carbondale, Carbondale, Illinois.

出版信息

Am J Med Genet A. 2015 May;167A(5):997-1007. doi: 10.1002/ajmg.a.36977. Epub 2015 Mar 8.

Abstract

Limited literature exists on children and adults diagnosed with the mosaic form of trisomy 9. Data from the Tracking Rare Incidence Syndromes (TRIS) project has provided physical characteristics and medical conditions for 14 individuals. This article provides TRIS Survey results of 25 additional cases at two data points (birth and survey completion) as well as developmental status. Results confirmed a number of phenotypic features and medical conditions. In addition, a number of cardiac anomalies were reported along with feeding and respiratory difficulties in the immediate postnatal period. In addition, developmental status data indicated a range in functioning level up to skills in the 36 and 48-month range. Strengths were also noted across the sample in language and communication, fine motor and social-emotional development. Implications for professionals caring for children with this genetic condition are offered.

摘要

关于被诊断患有9号染色体三体嵌合型的儿童和成人的文献有限。追踪罕见发病率综合征(TRIS)项目的数据提供了14名个体的身体特征和健康状况。本文提供了另外25例在两个数据点(出生和调查完成时)的TRIS调查结果以及发育状况。结果证实了一些表型特征和健康状况。此外,还报告了一些心脏异常情况以及出生后即刻出现的喂养和呼吸困难。此外,发育状况数据表明功能水平范围可达36至48个月龄的技能水平。在整个样本中,语言和沟通、精细运动以及社会情感发展方面也有优势。本文还为照顾患有这种遗传疾病儿童的专业人员提供了相关启示。

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