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Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.

作者信息

Sanchez-Jimeno Carolina, Bustamante-Aragonés Ana, Infantes-Barbero Fernando, Rodriguez De Alba Marta, Ramos Carmen, Trujillo-Tiebas María Jose, Lorda-Sánchez Isabel

机构信息

Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain.

Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.

出版信息

Clin Case Rep. 2014 Dec;2(6):303-9. doi: 10.1002/ccr3.117. Epub 2014 Sep 15.

DOI:10.1002/ccr3.117
PMID:25548634
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4270714/
Abstract

Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2db7/4270714/bc5896834667/ccr30002-0303-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2db7/4270714/ca56ef8c04ed/ccr30002-0303-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2db7/4270714/5171765ab55a/ccr30002-0303-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2db7/4270714/bc5896834667/ccr30002-0303-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2db7/4270714/ca56ef8c04ed/ccr30002-0303-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2db7/4270714/5171765ab55a/ccr30002-0303-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2db7/4270714/bc5896834667/ccr30002-0303-f3.jpg

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引用本文的文献

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本文引用的文献

1
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.一名患有严重精神运动发育迟缓、颅面畸形、脑和肢体畸形以及心脏缺陷的男孩存在 16q12 微缺失。
Am J Med Genet A. 2012 Jan;158A(1):229-35. doi: 10.1002/ajmg.a.34387. Epub 2011 Dec 2.
2
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.鉴定罕见的重复性 Potocki-Lupski 综合征相关重复序列，以及在 PTLS 中重排类型和机制的分布。
Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001. Epub 2010 Feb 25.
3
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
通过微阵列分析鉴定亚端粒区域的染色体异常：5380例病例的研究
Am J Med Genet A. 2008 Sep 1;146A(17):2242-51. doi: 10.1002/ajmg.a.32399.
4
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.两名先天性异常患者中与低拷贝重复相关的复杂17号染色体短臂重排
Hum Genet. 2007 Jul;121(6):697-709. doi: 10.1007/s00439-007-0359-6. Epub 2007 Apr 25.
5
Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events.
Am J Med Genet A. 2007 May 1;143A(9):985-94. doi: 10.1002/ajmg.a.31682.
6
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.波托基-卢斯基综合征（dup(17)(p11.2p11.2)）的特征描述以及对可导致自闭症表型的剂量敏感关键区间的界定。
Am J Hum Genet. 2007 Apr;80(4):633-49. doi: 10.1086/512864. Epub 2007 Feb 26.
7
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.通过定量实时聚合酶链反应检测杂合性SALL1缺失，证实了SALL1剂量效应在汤姆斯-布罗克斯综合征发病机制中的作用。
Hum Mutat. 2006 Feb;27(2):211-2. doi: 10.1002/humu.9396.
8
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.对11688例病例进行的亚端粒荧光原位杂交分析：发育障碍个体中亚端粒重排频率及模式的评估
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Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.通过光谱核型分析（SKY）检测到小的相互插入，并通过阵列比较基因组杂交（array-CGH）分析确定其范围。
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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.17p11.2重复的分子机制——史密斯-马吉尼斯微缺失的同源重组 reciprocal（此处“reciprocal”可能有误，推测原文为reciprocal translocation即相互易位，但按要求不做修改）
Nat Genet. 2000 Jan;24(1):84-7. doi: 10.1038/71743.