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2q32q35缺失表型的描绘：两种明显的“近端”和“远端”综合征。

Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.

作者信息

Mc Cormack Adrian, Taylor Juliet, Gregersen Nerine, George Alice M, Love Donald R

机构信息

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

出版信息

Case Rep Genet. 2013;2013:823451. doi: 10.1155/2013/823451. Epub 2013 Jun 9.

DOI:10.1155/2013/823451
PMID:23840981
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3690635/
Abstract

We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1-q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analysis confirmed an 8.6 Mb deletion in patients 1 and 2 and a 24.7 Mb deletion in patient 3. We discuss the genes involved in the deleted regions including MYO1B, GLS, FRZB, SATB2, and CPS1 and compare the phenotype with those reported in the literature. Taken together, these data suggest that there is a spectrum of disease severity such that patients with deletions encompassing the region of 2q32.1q32.2, which includes the FRZB gene, show an apparently milder phenotype compared to those that lie further distal in 2q32.3q35 that encompasses the SATB2 gene.

摘要

我们报告了3例2号染色体长臂间质缺失的患者，缺失区域涉及2q32.1-q35带。他们表现出广泛的表型变异，包括面部畸形、腭裂、学习困难、行为问题和严重的心脏缺陷。微阵列分析证实，患者1和患者2存在8.6 Mb的缺失，患者3存在24.7 Mb的缺失。我们讨论了缺失区域涉及的基因，包括MYO1B、GLS、FRZB、SATB2和CPS1，并将该表型与文献中报道的表型进行了比较。综合这些数据表明，存在一系列疾病严重程度，与包含SATB2基因的2q32.3q35更远端区域的患者相比，包含FRZB基因的2q32.1q32.2区域缺失的患者表现出明显较轻的表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2b0/3690635/db09d1c4de3f/CRIM.GENETICS2013-823451.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2b0/3690635/0792336684b5/CRIM.GENETICS2013-823451.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2b0/3690635/db09d1c4de3f/CRIM.GENETICS2013-823451.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2b0/3690635/0792336684b5/CRIM.GENETICS2013-823451.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2b0/3690635/db09d1c4de3f/CRIM.GENETICS2013-823451.002.jpg

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