PMID: 9450862Feb 5, 1998Paper

Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4)

American Journal of Medical Genetics
A FujimotoR Spinks

Abstract

A 17-year-old boy who was diagnosed with "Waardenburg syndrome" showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a chromosome 8. The rearrangement was confirmed to be nonreciprocal and an insertion by in situ hybridization using whole chromosome 4 and 8 painting probes. The mother's karyotype is 46,XX,ins(8;4)(q21.2;q12q21.1); that of the propositus is 46,XY, der(4)ins(8;4)(q21.2;q12q21.1)mat. This is the first report of an inherited proximal 4q deletion.

Citations

Jun 8, 2012·The Journal of Dermatology·Naoki OisoTamio Suzuki
Jun 15, 2005·European Journal of Medical Genetics·M VelinovG Kupchik
Oct 31, 2014·American Journal of Medical Genetics. Part a·Parisa HematiCornelius F Boerkoel
May 10, 2002·Clinical Genetics·N HaradaN Matsumoto
Dec 19, 2018·Pediatric Dermatology·Mohammed D Saleem
Oct 31, 2002·American Journal of Medical Genetics·A Radha RamadeviK Prabhakara
Mar 21, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·B GrimbacherJ M Puck

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