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一名散发型1型神经纤维瘤病（NF1）患者出现细胞遗传学缺失，即del(17)(q11.22q21.1)，该患者伴有畸形和发育迟缓。

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

作者信息

Upadhyaya M, Roberts S H, Maynard J, Sorour E, Thompson P W, Vaughan M, Wilkie A O, Hughes H E

机构信息

Institute of Medical Genetics, University Hospital of Wales Cardiff, UK.

出版信息

J Med Genet. 1996 Feb;33(2):148-52. doi: 10.1136/jmg.33.2.148.

DOI:10.1136/jmg.33.2.148
PMID:8929953
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051842/
Abstract

We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in size. Our findings highlight the importance of conducting a detailed cytogenetic and FISH analysis in patients with NF1 who have additional dysmorphic features or particularly severe learning difficulties.

摘要

我们报告了首例在患有散发性神经纤维瘤病、畸形特征和明显发育迟缓的患者中涉及NF1基因的可见细胞遗传学缺失。基于剂量减少、微卫星标记半合子状态、高分辨率G显带和荧光原位杂交（FISH）分析的分子和细胞遗传学技术的综合证据表明，该缺失大小约为7 Mb。我们的研究结果突出了对具有额外畸形特征或特别严重学习困难的NF1患者进行详细细胞遗传学和FISH分析的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adec/1051842/28df44f2b4a5/jmedgene00256-0063-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adec/1051842/569746f9b89d/jmedgene00256-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adec/1051842/98b6dee3c907/jmedgene00256-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adec/1051842/03990c960b50/jmedgene00256-0063-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adec/1051842/28df44f2b4a5/jmedgene00256-0063-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adec/1051842/569746f9b89d/jmedgene00256-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adec/1051842/98b6dee3c907/jmedgene00256-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adec/1051842/03990c960b50/jmedgene00256-0063-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adec/1051842/28df44f2b4a5/jmedgene00256-0063-c.jpg

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Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical Microdeletions.1型、2型和非典型微缺失患者的基因型-表型关联
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Emerging genotype-phenotype relationships in patients with large NF1 deletions.

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Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.使用高分辨率阵列比较基因组杂交技术鉴定神经纤维瘤病1型基因座中由节段性重复序列界定的新型缺失断点。
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Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.通过全身MRI扫描在一名1型神经纤维瘤病患者中确定存在广泛的高负荷内部肿瘤，该患者在17q11.2存在非LCR介导的2Mb缺失。
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