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Review
. 1998 Jan 6;75(1):78-81.
doi: 10.1002/(sici)1096-8628(19980106)75:1<78::aid-ajmg16>3.0.co;2-p.

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)

A Fujimoto  1 , K S Reddy, R Spinks
Affiliations
Review

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)

A Fujimoto et al. Am J Med Genet. .

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.

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