Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012]

Pereza Nina; Severinski Srecko; Ostojic Sasa; Volk Marija; Maver Ales; Dekanic Kristina Baraba; Kapovic Miljenko; Peterlin Borut

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Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012]

机译：染色体8q24杂合缺失导致的Cornelia de Lange综合征：Pereza等人在文章中的评论。 [2012]

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In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene. Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4. Considering that the interstitial deletion in our patient included the RAD21 and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome-4 caused by heterozygous deletions of chromosome 8q24. (c) 2015 Wiley Periodicals, Inc.

机译：在2012年3月的《华尔街日报》上，我们报道了一个女孩，该女孩患有Langer-Giedion综合征（LGS）表型，在8q23.3q24.13处有7.5Mb间隙缺失，包括EXT1，但不包括TRPS1基因。最近的发现表明，杂合子内基因突变或包括TRPS1基因下游的RAD21基因在内的连续基因缺失是Cornelia de Lange syndrome-4的病因。考虑到我们患者的间质缺失包括RAD21和30个其他RefSeq基因，我们建议对先前论文中报告的诊断进行修订，并将我们的患者与其他由杂合子引起的Cornelia de Lange综合征4患者进行比较。染色体8q24的缺失。（c）2015年威利期刊有限公司

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来源
《American journal of medical genetics, Part A》 |2015年第6期|共2页
作者
Pereza Nina; Severinski Srecko; Ostojic Sasa; Volk Marija; Maver Ales; Dekanic Kristina Baraba; Kapovic Miljenko; Peterlin Borut;
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正文语种 eng
中图分类医学遗传学;
关键词
Cornelia de Lange syndrome; chromosome deletion; Langer-Giedion syndrome;

机译：Cornelia de Lange综合征;染色体缺失;Langer-Giedion综合征;

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1. Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012] [J] . Pereza Nina, Severinski Srecko, Ostojic Sasa, American journal of medical genetics, Part A . 2015,第6期

机译：染色体8q24杂合缺失导致的Cornelia de Lange综合征：Pereza等人在文章中的评论。 [2012]
2. Are Angelman and Prader-Willi Syndromes More Similar than we Thought? Food-Related Behavior Problems in Angelman, Cornelia de Lange, Fragile X, Prader-Willi and 1p36 Deletion Syndromes [J] . Welham Alice, Lau Johnny, Moss Joanna, American journal of medical genetics, Part A . 2015,第3期

机译：Angelman和Prader-Willi综合征是否比我们想象的更相似？ Angelman，Cornelia de Lange，脆弱X，Prader-Willi和1p36缺失综合征中与食物有关的行为问题
3. An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4 [J] . Nikoletta Selenti, Maria Tzetis, Maria Braoudaki, Molecular cytogenetics . 2015,第S1期

机译：与8型Langer-Giedion综合征/ Trichorhinophalangealal综合征（TRPS）和Cornelia de Lange综合征相关的8q23.1-q24.12间质缺失
4. 3D foetal skull in Cornelia de Lange syndrome [C] . Olszewski R, Cordier Y, Fourneau C, European Association of Cranio-Maxillo-Facial Surgery . 2010

机译：3d Fottery头骨在Cornelia de Lange综合症
5. Cornelia de Lange Syndrome and the Developmental Origins of Heart Defects. [D] . Santos, Rosaysela. 2012

机译：Cornelia de Lange综合征和心脏缺陷的发展起源。
6. (1) Facts about Cornelia de Lange syndrome. (2) Facing the Challenges. A Parents Guide to Cornelia de Lange Syndrome. (3) Cornelia de Lange Syndrome Foundation Album 1989-90 [O] . M Ireland 1992

机译：（1）有关Cornelia de Lange综合征的事实。（2）面对挑战。 Cornelia de Lange综合症的父母指南。（3）Cornelia de Lange Syndrome Foundation Foundation 1989-90
7. (1) Facts about Cornelia de Lange syndrome. (2) Facing the Challenges. A Parents' Guide to Cornelia de Lange Syndrome. (3) Cornelia de Lange Syndrome Foundation Album 1989-90 [O] . Ireland, M 1992

机译：（1）有关Cornelia de Lange综合征的事实。（2）面对挑战。 Cornelia de Lange综合症的父母指南。（3）Cornelia de Lange Syndrome Foundation Foundation 1989-90

Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012]

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