A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings

Farcas Simona; Erdelean Dragos; Szekely Flavia Anne-Elise; Navolan Dan; Andreescu Nicoleta; Cioca Andreea

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A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings

机译：罕见的案例是部分三兆癣8Q24.12-Q24.3和局部单粒子为8Q24.3：产前诊断和临床调查结果

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Objective: We describe a rare case of "pure" 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH).

机译：目的：通过阵列对比基因组杂交（ACGH），我们描述了一种罕见的“纯”8Q复制的罕见的“纯”8Q复制，其进一步表征了阵列对比基因组杂交（ACGH）。

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来源
《Taiwanese journal of obstetrics and gynecology》 |2019年第1期|共4页
作者
Farcas Simona; Erdelean Dragos; Szekely Flavia Anne-Elise; Navolan Dan; Andreescu Nicoleta; Cioca Andreea;
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作者单位

Univ Med &

Pharm Victor Babes Timisoara Ctr Genom Med Genet Dept Timisoara Romania;

Victor Babes Univ Med &

Pharm Dept Obstet Gynecol &

Neonatol Timisoara Romania;

Clin Emergency Hosp Children Louis Turcanu Timiso Reg Ctr Med Genet Timis Timisoara Romania;

Victor Babes Univ Med &

Pharm Dept Obstet Gynecol &

Neonatol Timisoara Romania;

Univ Med &

Pharm Victor Babes Timisoara Ctr Genom Med Genet Dept Timisoara Romania;

Clin Emergency Hosp Children Louis Turcanu Timiso Reg Ctr Med Genet Timis Timisoara Romania;

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原文格式 PDF
正文语种 eng
中图分类妇产科学;
关键词
Array comparative genomic hybridization; Chromosome 8 duplication; Prenatal diagnosis;

机译：阵列比较基因组杂交;染色体8重复;产前诊断;

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1. A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings [J] . Simona Farcas, Dragos Erdelean, Flavia Anne-Elise Szekely, Taiwanese journal of obstetrics and gynecology . 2019,第1期

机译：罕见的部分三体性8q24.12-q24.3和部分单体性8q24.3的罕见病例：产前诊断和临床发现
2. Prenatal diagnosis of partial trisomy 3q(3q22-->qter) and monosomy 6q(6q25.3-->qter) in a fetus with sonographic findings of cystic hygromata colli and unilateral pleural effusion. [J] . Chen CP Prenatal Diagnosis . 2001,第1期

机译：胎儿的三体性3q（3q22-> qter）和单体6q（6q25.3-> qter）的产前诊断，超声检查发现的是囊性湿疹和单侧胸腔积液。
3. Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 --> qter) and partial monosomy 6q(6q26 --> qter) by high-resolution array CGH. [J] . Choy KW, Chan LW, Tang M The journal of maternal-fetal & neonatal medicine . 2009,第11期

机译：高分辨率阵列CGH对并发的部分三体性7q（7q31.2-> qter）和部分单体性6q（6q26-> qter）的产前发现和描述。
4. Partial Findings of the Clinical Engineering Body of Knowledge and Body of Practice Survey [C] . S. J. Calil, L N. Nascimento World Congress on Medical Physics and Biomedical Engineering . 2019

机译：临床工程体系和实践调查体系的部分发现
5. Diagnosis of finite state models under partial or unreliable observations. [D] . Athanasopoulou, Eleftheria. 2007

机译：根据部分或不可靠的观察结果诊断有限状态模型。
6. Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature [O] . Yuan Wei, Xuefeng Gao, Liying Yan, 2012

机译：部分三体性13q和部分性单体性10p的产前诊断和产后随访：1例报道并文献复习
7. Prenatal Diagnosis of Partial Trisomy 3p (3p21→pter) and Partial Monosomy 11q (11q23→qter) Associated with Abnormal Sonographic Findings of Holoprosencephaly, Orofacial Clefts, Pyelectasis and a Unilateral Duplex Renal System [O] . Chih-Ping Chen, Tzu-Hao Wang, Chyi-Chyang Lin, 2008

机译：部分三体性3p（3p21→pter）和部分单体11q（11q23→qter）的产前诊断与全脑畸形，颌面裂，脓肿和单侧双肾肾系统的异常超声检查结果相关

A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings

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