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一名患有（4）（q25→q27）间质性缺失的男孩出现多种先天性异常，包括里格尔眼畸形，其父亲表型正常，但存在平衡插入，提示单倍型不足导致里格尔畸形。

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.

作者信息

Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo R H

机构信息

Institute of Medical Genetics, University of Zürich, Switzerland.

出版信息

J Med Genet. 1997 Dec;34(12):1012-4. doi: 10.1136/jmg.34.12.1012.

DOI:10.1136/jmg.34.12.1012
PMID:9429145
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051154/
Abstract

A 7 year old boy with minor facial anomalies, the Rieger eye malformation, reduced vision, genital anomalies, and severe mental retardation had deletion of the segment 4q24-->q26. His phenotypically normal father had a balanced insertion of that segment into the distal long arm of chromosome 6: 46,XY,ins(6;4)(q26;q24q26). Microsatellite loci flanking the RIEG gene on 4q25 were deleted giving indirect evidence of deletion of this locus. This finding and the normal ocular findings in the insertion carrier father show that haplotype insufficiency can cause the Rieger eye malformation.

摘要

一名7岁男孩患有轻微面部异常、里格尔眼畸形、视力减退、生殖器异常和严重智力迟钝，其4q24→q26区段缺失。他表型正常的父亲有该区段平衡插入到6号染色体长臂远端：46,XY,ins(6;4)(q26;q24q26)。4q25上里格尔基因侧翼的微卫星位点缺失，间接证明了该位点的缺失。这一发现以及插入携带者父亲正常的眼部表现表明单倍型不足可导致里格尔眼畸形。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48cb/1051154/b0ada37930c3/jmedgene00254-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48cb/1051154/a8e462573ed0/jmedgene00254-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48cb/1051154/b0ada37930c3/jmedgene00254-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48cb/1051154/a8e462573ed0/jmedgene00254-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48cb/1051154/b0ada37930c3/jmedgene00254-0053-b.jpg

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本文引用的文献

1
Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193.里格尔综合征基因座：一个新的相互易位t(4;12)(q25;q15)和一个缺失del(4)(q25q27)均在标记D4S2945和D4S193之间断裂。
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Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10.
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Interstitial deletion of the long arm of chromosome 4.
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Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment.一名畸形女孩4号染色体26区带单条染色体缺失：4q26区段Rieger综合征相关基因的排除。
J Med Genet. 1988 Sep;25(9):628-30. doi: 10.1136/jmg.25.9.628.
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Evidence that Rieger syndrome maps to 4q25 or 4q27.有证据表明里格尔综合征定位于4q25或4q27。
J Med Genet. 1992 Apr;29(4):256-8. doi: 10.1136/jmg.29.4.256.
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