1.15?Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.

Aleksandra Jezela-Stanek; Marzena Kucharczyk; Magdalena Pelc; Anna Gutkowska; Ma?gorzata Krajewska-Walasek

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1.15?Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.

机译：染色体20p13带1.15 Mb微缺失与中度发育迟缓-附加病例和数据回顾有关。

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We report on a 9-year-old girl with subtelomeric 20p microdeletion. She was referred for genetic counseling because of learning difficulties/school problems. During the evaluation short stature, hypoplastic fingernails, submucous cleft palate with cleft uvula, flat feet, and frequent upper respiratory infections, as well as the large fontanelle after birth were observed. No facial dysmorphic features specific for chromosomal aberrations were present. The diagnosis of deletion of 20p13 was established by MLPA, and delineated by arrayCGH. Our report describes the third individual with this approximate deletion, and presents detailed molecular and phenotypic characteristics providing new data supporting future genotype-phenotype study.

机译：我们报道了一个9岁的亚端粒20p微缺失的女孩。由于学习困难/学校问题，她被推荐接受遗传咨询。在评估过程中，观察到身材矮小，指甲发育不良，粘膜下裂，小舌裂，扁平足，上呼吸道感染频繁，以及出生后after门大。没有针对染色体畸变的面部畸形特征存在。 MLPA建立了20p13缺失的诊断，arrayCGH对其进行了描述。我们的报告描述了具有这种近似缺失的第三个人，并提出了详细的分子和表型特征，提供了支持未来基因型-表型研究的新数据。

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《American journal of medical genetics, Part A》 |2013年第1期|共7页
作者
Aleksandra Jezela-Stanek; Marzena Kucharczyk; Magdalena Pelc; Anna Gutkowska; Ma?gorzata Krajewska-Walasek;
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正文语种 eng
中图分类医学遗传学;
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1. 1.15?Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review. [J] . Aleksandra Jezela-Stanek, Marzena Kucharczyk, Magdalena Pelc, American journal of medical genetics, Part A . 2013,第1期

机译：染色体20p13带1.15 Mb微缺失与中度发育迟缓-附加病例和数据回顾有关。
2. A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion. [J] . Liang JS, Shimojima K, Ohno K Journal of Medical Genetics . 2009,第9期

机译：一种新发现的2p15-16.1小缺失综合征，表现出中等程度的发育延迟，自闭行为，身材矮小，小头畸形和畸形特征：一名新患者，缺失3.2 Mb。
3. A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity [J] . ShichijiM., ItoY., ShimojimaK., American journal of medical genetics, Part A . 2013,第4期

机译：在发育迟缓和肥胖症患者中，隐含的微缺失包括MBD5发生在染色体2和5之间的相互易位的断点内
4. The Analysis Of Rbmyl Sts Rbmi Microdeletion Gene On Azoospermic Factor (Azf) Region Of The Y Chromosome In Infertile Men In Palembang [C] . Tedy Febriyanto International Conference on Inter-professional Health Collaboration . 2019

机译：柏陵宫不含染色体染色体（AZF）区rbmyl sts RBMI微蛋白酶蛋白（AZF）区的分析
5. The Development and Use of a Modified Text Messaging Application Utilizing Voice Output and Pictures/Picture Symbols to Increase Instances of Independent Electronic Communication for Individuals with Moderate to Severe Intellectual and Developmental Disabilities. [D] . Lojkovic, David A. 2015

机译：开发和使用改进的文本消息传递应用程序，该应用程序使用语音输出和图片/图片符号为中度至重度智力和发育障碍的个人增加独立电子通信的实例。
6. Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature [O] . Hung‐Hsiang Fang, Shih‐Yao Liu, Ying‐Fu Wang, 2019

机译：20p13染色体带微缺失的表型特征：一例病例报告并文献复习
7. 7q11.23-q21.2 Microdeletion is associated with moderate structural brain abnormalities and global developmental delay: first report [O] . George T Vasileiadis, Jennifer Carter, Richard H Scott 2015

机译：7Q11.23-Q21.2微缺失与中度结构脑异常和全球发展延误有关：第一报告
8. 1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a Child [R] . Cobb, W., Anderson, A., Turner, C., 2010

机译：染色体带3q29中的1.3 mb de novo缺失与儿童的正常智力相关

1.15?Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.

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