16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay

Maldziene Zivile; Bulanovaite Elena; Aleksiuniene Beata; Utkus Algirdas; Preiksaitiene Egle

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16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay

机译：16P13.11-P12.3微缺细胞患者在患者中鉴定出射击性颅骨，发育延迟

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来源
《Clinical dysmorphology 》 |2019年第4期| 共3页
作者
Maldziene Zivile; Bulanovaite Elena; Aleksiuniene Beata; Utkus Algirdas; Preiksaitiene Egle;
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作者单位

Vilnius Univ Hosp Santaros Klin Dept Human &

Med Genet Inst Biomed Sci Fac Med Vilnius;

Vilnius Univ Hosp Santaros Klin Fac Med Vilnius Lithuania;

Vilnius Univ Hosp Santaros Klin Dept Human &

Med Genet Inst Biomed Sci Fac Med Vilnius;

Vilnius Univ Hosp Santaros Klin Dept Human &

Med Genet Inst Biomed Sci Fac Med Vilnius;

Vilnius Univ Hosp Santaros Klin Dept Human &

Med Genet Inst Biomed Sci Fac Med Vilnius;

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原文格式 PDF
正文语种 eng
中图分类妇产科学 ;
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1. 16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay [J] . Maldziene Zivile, Bulanovaite Elena, Aleksiuniene Beata, Clinical dysmorphology . 2019 ,第4期

机译：16P13.11-P12.3微缺细胞患者在患者中鉴定出射击性颅骨，发育延迟
2. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. [J] . Eric A Muller, Swaroop Aradhya, Joan F Atkin, American journal of medical genetics, Part A . 2012 ,第2期

机译：微缺失9q22.3综合征包括脑功能异常，脑积水，巨大儿和发育迟缓。
3. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features [J] . Quintela Ines, Barros Francisco, Lago-Leston Ramon, American journal of medical genetics, Part A . 2015 ,第6期

机译：一名男性遗传的16p13.11-p12.3复制伴随着de novo SOX5缺失，该男性患者具有整体发育延迟，破坏性和强迫行为以及轻微的畸形特征
4. Computer-assisted quantification of surgical outcome in infants with sagittal craniosynostosis in 3D head CT images using mean normal skull model [C] . Min Jin Lee, Helen Hong, Kyu Won Shim Medical Imaging Conference . 2020

机译：使用平均正常颅骨模型在3D头颅CT图像中计算机辅助评估矢状颅突融合症婴儿的手术结局
5. Pediatricians’ Use of Developmental Screeners to Identify Communication Delays: Trends Across the United States [D] . Voelmle, Krista. 2020

机译：儿科医生使用发展筛选者识别通信延误：美国趋势
6. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. [O] . D Johnson, S W Horsley, D M Moloney, 1998

机译：对颅骨融合症患者进行TWIST突变的全面筛查可确定染色体带7p21.1的新的微缺失综合征。
7. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay [O] . Muller Eric A., Aradhya Swaroop, Atkin Joan F., 2012

机译：微缺失9q22.3综合征包括特应性颅缝早闭，脑积水，巨大儿和发育迟缓

16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay

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