Header

UZH-Logo

Maintenance Infos

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


Schinzel, Albert; Brecevic, Lucrecijav; Dutly, Fabrizio; Baumer Wolz, Alessandra; Binkert, Franz; Largo, Remo H (1997). 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. Journal of Medical Genetics, 34(12):1012-1014.

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.

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.

Statistics

Citations

Dimensions.ai Metrics
19 citations in Web of Science®
19 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

0 downloads since deposited on 18 Apr 2023
0 downloads since 12 months

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics
Language:English
Date:1 December 1997
Deposited On:18 Apr 2023 14:36
Last Modified:29 Apr 2024 01:37
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Publisher DOI:https://doi.org/10.1136/jmg.34.12.1012
PubMed ID:9429145
Other Identification Number:PMCID: PMC1051154
Project Information:
  • : FunderSwiss National Foundation
  • : Grant ID32.37798.93
  • : Project Title
  • : FunderSwiss National Foundation
  • : Grant ID32.45604.95
  • : Project Title