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一名新生女婴6号和16号染色体短臂之间的新型不平衡易位：临床特征与处理

A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management.

作者信息

de Sousa Paula, Kennedy Alasdair, Lalani Heva H S

机构信息

Department of Paediatrics East Surrey Hospital Redhill UK.

Department of Ophthalmology Worthing Hospital Worthing UK.

出版信息

Clin Case Rep. 2018 May 24;6(7):1282-1286. doi: 10.1002/ccr3.1574. eCollection 2018 Jul.

DOI:10.1002/ccr3.1574
PMID:29988690
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6028415/
Abstract

The reporting of previously undescribed genetic mutations and resulting clinical phenotypes guides management and enables a more accurate prognosis for clinicians treating newborns with similar features. Previous cases of 6p deletions and 16p duplications have been described as separate entities. This patient presents with both and has a unique phenotype.

摘要

对先前未描述的基因突变及其导致的临床表型进行报告，可为临床医生治疗具有相似特征的新生儿提供管理指导，并实现更准确的预后判断。先前关于6p缺失和16p重复的病例已被描述为不同的实体。该患者同时存在这两种情况，并具有独特的表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4342/6028415/914f190ef628/CCR3-6-1282-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4342/6028415/5ba6f35f75ad/CCR3-6-1282-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4342/6028415/ceb78e6537a0/CCR3-6-1282-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4342/6028415/9616acb97f23/CCR3-6-1282-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4342/6028415/914f190ef628/CCR3-6-1282-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4342/6028415/5ba6f35f75ad/CCR3-6-1282-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4342/6028415/ceb78e6537a0/CCR3-6-1282-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4342/6028415/9616acb97f23/CCR3-6-1282-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4342/6028415/914f190ef628/CCR3-6-1282-g004.jpg

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本文引用的文献

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Ophthalmic Genet. 2017 Mar-Apr;38(2):101-107. doi: 10.3109/13816810.2016.1164191. Epub 2016 Apr 12.
2
Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.16p13.3 号染色体间区重复的表型扩展：病例报告及文献复习。
Gene. 2013 Dec 1;531(2):502-5. doi: 10.1016/j.gene.2013.09.006. Epub 2013 Sep 12.
3
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.
16p13.3重复与CREBBP基因：表型确认
Eur J Med Genet. 2013 Jan;56(1):26-31. doi: 10.1016/j.ejmg.2012.09.005. Epub 2012 Oct 11.
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Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.间质性16号染色体短臂13.3微重复：病例报告及基因型-表型相关性的批判性综述
Eur J Med Genet. 2012 Dec;55(12):747-52. doi: 10.1016/j.ejmg.2012.09.006. Epub 2012 Sep 29.
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Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.FOXC1 基因相关 6p25 缺失的产前和产后表型。
Am J Med Genet A. 2012 Oct;158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17.
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