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隐匿性易位导致的家族性沃尔夫-赫希霍恩综合征：一项临床与分子研究。

Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.

作者信息

Reid E, Morrison N, Barron L, Boyd E, Cooke A, Fielding D, Tolmie J L

机构信息

Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow, UK.

出版信息

J Med Genet. 1996 Mar;33(3):197-202. doi: 10.1136/jmg.33.3.197.

DOI:10.1136/jmg.33.3.197
PMID:8728691
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051867/
Abstract

We present three cousins who have normal karyotypes, despite having clinical features of Wolf-Hirschhorn syndrome. Fluorescence in situ hybridisation techniques confirmed that all three relatives were monosomic for the distal short arm of chromosome 4 and that a cryptic translocation involving chromosomes 4 and 11 was segregating within the family. Segregation analysis indicated that the risk of an affected child being born to a parent carrying the translocation was 15%. Molecular analysis showed that loci D4S111 and D4S115 were not deleted in the proband, thus excluding these loci from the "Wolf-Hirschhorn critical region". Surprisingly, DNA studies also suggested that the translocation breakpoint on chromosome 4 was within the region of a preexisting paracentric inversion.

摘要

我们报告了三位表亲，尽管他们具有沃尔夫-赫希霍恩综合征的临床特征，但染色体核型正常。荧光原位杂交技术证实，这三位亲属的4号染色体短臂远端均为单体型，并且一种涉及4号和11号染色体的隐匿性易位在家族中进行分离。分离分析表明，携带这种易位的父母生育患病子女的风险为15%。分子分析显示，先证者中D4S111和D4S115位点未缺失，因此将这些位点排除在“沃尔夫-赫希霍恩关键区域”之外。令人惊讶的是，DNA研究还表明，4号染色体上的易位断点位于一个先前存在的臂间倒位区域内。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dea7/1051867/1275b1a425a9/jmedgene00257-0023-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dea7/1051867/0465049f8115/jmedgene00257-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dea7/1051867/027c5cec3e92/jmedgene00257-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dea7/1051867/1275b1a425a9/jmedgene00257-0023-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dea7/1051867/0465049f8115/jmedgene00257-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dea7/1051867/027c5cec3e92/jmedgene00257-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dea7/1051867/1275b1a425a9/jmedgene00257-0023-b.jpg

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本文引用的文献

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A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes.一种针对三核苷酸重复序列的新型聚合酶链反应（PCR）检测方法，该三核苷酸重复序列在亨廷顿病染色体上不稳定且会发生扩增。
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De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.遗传性罗伯逊易位染色体上的新生微缺失：明显平衡易位携带者中畸形的一个原因。
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A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome.
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.
使用染色体端粒的微卫星标记对特发性智力障碍儿童进行亚显微染色体重排筛查。
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A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.一种用于特发性智力障碍患者隐匿性端粒易位筛查的新策略。
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Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.三个家族中涉及4p16.3的易位：缺失导致皮特-罗杰斯-丹克斯综合征，重复导致一种新的过度生长综合征。
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定位于4p16.3/D4S90的锌指基因ZNF141是Wolf-Hirschhorn（4p-）综合征的候选基因。
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Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.导致沃尔夫-赫希霍恩综合征的4号染色体短臂缺失的分子特征分析。
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Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH).使用荧光原位杂交（FISH）技术在未培养的羊水细胞上进行猫叫综合征的产前检测。
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