PMID: 9429145Jan 16, 1998Paper

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
A SchinzelR H Largo

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.

Citations

Jun 11, 2009·European Journal of Human Genetics : EJHG·Zeynep Tümer, Daniella Bach-Holm
Sep 14, 2007·Clinical Genetics·E EngenheiroZ Tümer
Oct 19, 2016·Acta Ophthalmologica·Morteza SeifiMichael A Walter
Feb 21, 2004·Developmental Biology·Donna M MartinSally A Camper
Apr 10, 2014·American Journal of Medical Genetics. Part a·Hannah TitheradgeDenise Williams
Oct 4, 2017·Clinical Genetics·M Seifi, M A Walter
Apr 2, 2010·American Journal of Medical Genetics. Part a·Lilia MoreiraMariluce Riegel
Apr 18, 2003·European Journal of Human Genetics : EJHG·Deepak KamnasaranDiane W Cox
Feb 25, 2006·Birth Defects Research. Part A, Clinical and Molecular Teratology·Irfan SaadiAndrew F Russo

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