A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability

Ekaterina M. Galanina; Andrey A. Tulupov; Natalya A. Lemskaya; Aleksandra M. Korostyshevskaya; Yuliya V. Maksimova; Asia R. Shorina; Andrey A. Savelov; Irina G. Sergeeva; Evgeniya R. Isanova; Irina V. Grishchenko; Dmitry V. Yudkin

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A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability

机译：一名女性，患有FMR1突变和马赛克X染色体非整倍性，并有两个儿子患有智力障碍

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In this report, we describe a molecular cytogenetic study of a family burdened with intellectual disability (ID) and suicide. Our study revealed that the mother has a heterozygous premutation in the FMR1 gene and supernumerary X chromosomes as well as X-derived marker chromosomes. Both of her sons have ID and a normal chromosome number. One of the sons has fragile X syndrome, and the other has ID of an unclear nature.

机译：在本报告中，我们描述了一个患有智力残疾（ID）和自杀的家庭的分子细胞遗传学研究。我们的研究表明，该母亲在FMR1基因和多余的X染色体以及X衍生的标记染色体中具有杂合子突变。她的两个儿子都具有ID和正常的染色体编号。其中一个儿子患有脆弱的X综合征，另一个儿子的ID不清楚。

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《Molecular syndromology》 |2017年第114期|共页
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Ekaterina M. Galanina; Andrey A. Tulupov; Natalya A. Lemskaya; Aleksandra M. Korostyshevskaya; Yuliya V. Maksimova; Asia R. Shorina; Andrey A. Savelov; Irina G. Sergeeva; Evgeniya R. Isanova; Irina V. Grishchenko; Dmitry V. Yudkin;
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1. A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability [J] . Ekaterina M. Galanina, Andrey A. Tulupov, Natalya A. Lemskaya, Molecular syndromology . 2017,第110a114期

机译：一名女性，患有FMR1突变和马赛克X染色体非整倍性，并有两个儿子患有智力障碍
2. Learning disability in a son and premature ovarian failure as clinical pointers to identify a premutation on the X chromosome in a female with long-standing tremor [J] . Roberto López-Blanco, Ignacio J. Posada Rodríguez, Julián Benito-León Parkinsonism & related disorders . 2017,第期

机译：儿子和过早卵巢失败的学习残疾作为临床指针，以识别X染色体中的X染色体中的患者，长期震颤
3. 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] . Chen Chih-Ping, Lin Shuan-Pei, Chern Schu-Rern, Taiwanese journal of obstetrics and gynecology . 2016,第6期

机译：一名身材矮小，肥胖，注意力不集中的18岁女性从8号染色体或r（8）（:: p11.22-> q11.21：:)衍生出来的一个小的数字标记染色体的镶嵌术的分子细胞遗传学特征多动症和智力障碍
4. The Effectiveness of Social Stories and Video Modeling in Improving Self-Care Skills in Female Adolescents with Mild Intellectual Disabilities during Menstrual Periods [C] . Tika Dwi Ariyanti, Lucia R. M. Royanto International Conference of Intervention and Applied Psychology . 2018

机译：社会故事和视频建模在月经期间改善女青少年自我保健技能的效力
5. Detection of aneuploidy for chromosomes 7 and 8 using fluorescence in situ hybridization in patients with aplastic anemia and sequencing of the mitotic checkpoint gene hBUB1. [D] . Aridgides, Laura Jane. 2001

机译：在再生障碍性贫血患者中使用荧光原位杂交技术检测7号和8号染色体的非整倍性，并对有丝分裂检查点基因hBUB1进行测序。
6. A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability [O] . Ekaterina M. Galanina, Andrey A. Tulupov, Natalya A. Lemskaya, 2017

机译：一名女性患有FMR1突变和马赛克X染色体非整倍性两个儿子患有智力障碍
7. 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

A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability

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