Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

Bonnet C; Zix C; Gregoire MJ; Brochet K; Duc M; Rousselet F; Philippe C; Jonveaux P

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Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

机译：阵列-CGH镶嵌多环环形染色体的特征：身高肥胖的儿童近端4q的节段性气管切开术。

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We report on a 6-year-old girl with developmental delay, tall stature, and obesity. G-banded chromosome analysis revealed mosaicism for one to three small de novo rings in 82% of peripheral lymphocytes. Fluorescence in situ hybridization (FISH) studies and metaphase comparative genomic hybridization (CGH) demonstrated that the rings were derived from 4q10-4q13. A higher resolution investigation was initiated using array-CGH analysis and revealed a gain of 11 adjacent clones spanning a 16 Mb region at 4q11-q13.2 and including the insulin-like growth factor binding protein 7 (IGFBP7) gene. This finding suggests that postnatal overgrowth observed in our patient might be related to a dosage effect of the IGFBP7 gene.

机译：我们报道了一名6岁女孩，发育迟缓，身材高大和肥胖。 G带染色体分析显示82％的外周淋巴细胞中有1至3个小新生环的镶嵌。荧光原位杂交（FISH）研究和中期比较基因组杂交（CGH）表明，这些环衍生自4q10-4q13。开始使用阵列CGH分析进行更高分辨率的研究，结果发现11个相邻克隆的扩增跨越4q11-q13.2处的16 Mb区域，并包括胰岛素样生长因子结合蛋白7（IGFBP7）基因。这一发现表明，在我们的患者中观察到的产后过度生长可能与IGFBP7基因的剂量效应有关。

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来源
《American journal of medical genetics, Part A》 |2006年第3期|共5页
作者
Bonnet C; Zix C; Gregoire MJ; Brochet K; Duc M; Rousselet F; Philippe C; Jonveaux P;
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正文语种 eng
中图分类医学遗传学;
关键词
Abnormalities; Multiple; Chromosomes; Human; Pair 4; Mosaicism; Nucleic Acid Hybridization; 畸形; 多发性; 染色体; 人; 4对; 镶嵌现象; 核酸杂交;

机译：Abnormalities;Multiple;Chromosomes;Human;Pair 4;Mosaicism;Nucleic Acid Hybridization;畸形;多发性;染色体;人;4对;镶嵌现象;核酸杂交;

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1. Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity. [J] . Bonnet C, Zix C, Gregoire MJ, American journal of medical genetics, Part A . 2006,第3期

机译：阵列-CGH镶嵌多环环形染色体的特征：身高肥胖的儿童近端4q的节段性气管切开术。
2. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability [J] . Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Taiwanese journal of obstetrics and gynecology . 2016,第6期

机译：一名身材矮小，肥胖，注意力缺陷多动症的18岁女性中源自8号染色体或r（8）（:: p11.22→q11.21：:)的一条小数字标记染色体的镶嵌术的分子细胞遗传学特征障碍和智力障碍
3. Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring. [J] . Melis D, Genesio R, Del Giudice E, Clinical dysmorphology . 2012,第1期

机译：由于19号染色体多余的环而导致选择性认知障碍和身材高大。
4. An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism Linear Skin Pigmentation and Hepatomegaly [O] . J. Carter, H. Brittain, D. Morrogh, 2017

机译：异型性皮肤色素沉着和肝肿大的儿童与马赛克互补环染色体间质性4q删除。
5. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability [O] . Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, 2016

机译：来自8号染色体或r（8）（:: p11.22→q11.21：:)的小型超数标记染色体的镶嵌性的分子细胞遗传学表征，18岁女性身材矮小，肥胖，注意力缺陷多动紊乱和智力残疾

Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

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